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1. Genetic abnormality
Patau's syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body's cells. It's also called trisomy 13. Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents.
2. Incidence
Patau's syndrome affects about 1 in every 5,000 births. The risk of having a baby with the syndrome increases with the mother's age. More than 9 out of 10 children born with Patau's syndrome die during the first year.
3. Clinical Features
Many of the clinical features widely vary; however, severe mental deficiency is a consistent feature in children born with Patau syndrome. Holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, facial clefting, neural tube defects, and heart defects are also frequent clinical features.

Jeobe Dean A. Tiongzon

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1.  Genetic Abnormality

- This  a genetic condition that results when a boy is born with an extra copy of the X chromosome. The condition affects the males and is caused by adding an extra chromosome. This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual.

2. Incidence

- The prevalence of Klinefelter syndrome is approximately 1 to 2.5 per 1000 boys and men (0.1 to 0.25 percent) [1-4]. Only 25 to 50 percent of patients with Klinefelter syndrome are diagnosed during their lifetimes.

3. Clinical Features

- It is observed that there is low sperm count or no sperm, small testicles and penis ,low sex drive, taller than average height, weak bones, decreased facial and body hair, less muscular compared with other men ,enlarged breast tissue, and increased belly fat.

Coleen Claire S. Claudio

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1. Genetic Abnormality
is a neuromuscular illness caused by a genetic (inherited) mutation that causes muscles to weaken and waste away. Motor neurons, a type of nerve cell in the spinal cord that controls muscle movement, are lost in people with SMA. Muscles do not receive nerve signals that cause them to move unless these motor neurons are present. Atrophy is a medical term that means "to shrink." Due to a lack of use, specific muscles in SMA become smaller and weaker.

2. Incidence
Spinal muscular atrophy (SMA) is the second most prevalent autosomal recessive disease in humans, after cystic fibrosis. The overall prevalence of SMA is estimated to be between 1 in 6000 and 1 in 10,000 live births, with a carrier frequency of up to 1 in 40.

3. Clinical Features
Type 1 (severe)

Symptoms appear at birth or within an infant’s first six months of life.

difficulty swallowing and sucking.

They don’t meet typical milestones like holding up their heads or sitting.

Most children with type 1 SMA die before their second birthday.

Type 2 (intermediate)

appear when a child is between six months and 18 months old

affect the lower limbs

may be able to sit up but can’t walk

Most children with type 2 SMA live into adulthood.

Type 3 (mild)

appear after a child’s first 18 months of life

Some people with type 3 don’t have signs of disease until early adulthood.

mild muscle weakness, difficulty walking and frequent respiratory infections

Over time, symptoms can affect the ability to walk or stand.

doesn’t significantly shorten life expectancy

Type 4 (adult)

rare adult form of SMA doesn’t typically appear until the mid-30s

Muscle weakness symptoms progress slowly

most people with type 4 remain mobile and live full lives

-Pilapil, Adrian Paule P.

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1. Genetic Abnormality
Sometimes referred to as congenital ovarian hypoplasia syndrome, is a genetic disorder. It is the most common sex chromosomal abnormality affecting girls and women. More specifically, it’s a problem with one of the two X chromosomes, the thread-like structures inside cells that are made of DNA. We get our DNA from our parents and it is the DNA that contains the specific instructions that make each living creature unique.

2. Incidence
Turner syndrome is the most common sex chromosome abnormality in females and occurs in approximately 1 in 2000 to 1 in 2500 live female births, based on epidemiological and newborn genetic screening data from Europe, Japan, and the United States

3. Clinical Features
Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature. Girls with Turner syndrome grow more slowly than other children.

Barte, Athan Rie J.

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Genetic Abnormality:
caused by a change to a gene on the X-chromosome called the FMR1 gene which  produces a protein that helps the brain regulate the production of other proteins and plays a role in the development of synapses in the nervous system. Thus, neurolinkage is disrupted causing a defect that is manifested through retardation and cognitive abilities.

Incidence:
In the Philippines, it is estimated that there are about 10,000 children born with Fragile X Syndrome. On a global scale, conservative estimates would range from 1 in 2500-4000 males and 1 in 7000-8000 females.

Clinical Features:
For physical manifestations, it's observed that people with the syndrome have a narrow face, large head, large ears, flexible joints, flat feet, and a prominent forehead. In terms of symptomatic expression, balance problems, shaky hands, unstable mood, memory loss, cognitive problems and numbness in the limbs are common.

- Dylan Enoch Boncalon

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1. Genetic abnormality
This genetic disorder is due to the triplication of chromosome 13. In other words, instead of 2, there are 3 copies of the said chromosome.

2. Incidence
Patau's syndrome occurs in 1 in every 5,000 births. Just like trisomy 21, the risk of the child having trisomy 13 increases with the mother's age.

3. Clinical features
• Cleft lip and palate
• Microphthalmia or abnormally small eyes
• Anophthalmia or the absence of 1 or both eyes
• Hypotelorism or the reduced distance between the eyes (eyes appear closer to each other)
• Abnormalities in the development of the nasal passages
• Microcephaly or abnormally small head
• Cutis aplasia
• Abnormalities of the ears, including deafness
• Capillary hemangiomas

Cataluña, Jasmine P.

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1. Genetic abnormality
Trisomy 21 is one of the most common type of Down Syndrome. There are three types of down syndrome, namely: trisomy 21, mosaicism, and translocation.  Trisomy 21 is a genetic condition wherein a child has an extra copy of his/her chromosome 21 and this condition can cause physical and mental development delays and disabilities.

2. Incidence
As per the Centers for Disease Control and Prevention (CDC), about 6,000 babies are born with Down syndrome, which is about 1 in every 700 babies born each year.

3. Clinical Features
Both children and adults with trisomy 21 have distinct facial features and the most common ones are flattened face, small head, short neck, protruding tongue, upward slanting eyelids, unusually shaped or small ears, poor muscle tone, broad, short hands with a single crease in the palm, relatively short fingers and small hands and feet, have Brushfield's spots in the eyes, and have a short height. Patients with this condition have a mild to moderate cognitive impairment, delayed language, and affected short and long-term memory.

Alicante, Abigail C.

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Genetic Disorder

Sickle cell disease is a genetic condition that primarily affects African-Americans. The condition is inherited as an autosomal recessive trait and is caused by mutations in one of the genes that encode the hemoglobin protein. The sickle form of the red blood cells is caused by the mutation. Sickle cell disease causes people to become chronically anemic and causes major damage to their heart, lungs, and kidneys.

Incidence

Between 1999 and 2002, deaths caused by sickle cell disease in Black or African-American children under the age of four decreased by 42%. The release of a vaccination to defend against invasive pneumococcal illness in 2000 coincided with this reduction.

SCD affects about 100,000 people in the United States.

SCD affects roughly 1 in every 365 Black or African-American babies born.

SCD affects roughly 1 in every 16,300 Hispanic-American babies born.

Sickle cell trait affects about 1 in every 13 Black or African-American newborns (SCT).

Clinical Feature

Anemia

Episode of Pain

Swelling of Hands and feet

Infections

Late growth and Puberty

Vision problem

-Paca Dioselmae

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1. GENETIC ABNORMALITY

It is an autosomal recessive disorder. A parent with one abnormal Usher gene does not manifest the disorder, however, he/she has 50% chance of passing it to their offspring. So far, researchers have found nine genes that cause Usher syndrome. Genetic testing is available for all of them:

Type 1 Usher syndrome: MY07A, USH1C, CDH23, PCHD15, USH1G

Type 2 Usher syndrome: USH2A, GPR98, DFNB31

Type 3 Usher syndrome: CLRN1

2. INCIDENCE
It is the common genetic disease involving both hearing and vision loss. Usher syndrome affects approximately 4-17 in 100,000 people worldwide. 10% of all cases of moderate to profound deafness in children is caused by Usher syndrome types 1 & 2. It also accounts 50% of the hereditary deaf-blindness cases. Types 1 and 2 are the most common.

3. CLINICAL FEATURES
People with type 1 have:

Profound hearing loss (only able to hear very loud sounds) or deafness at birth

Loss of night vision by age 10, with severe vision loss by midlife

Balance problems, including trouble sitting up and walking

People with type 2 have:

Moderate to severe hearing loss in early childhood

Loss of night vision by teenage years, with severe vision loss by midlife

Normal balance

People with type 3 have:

Normal hearing at birth, with hearing loss starting in childhood

Loss of night vision by teenage years, with severe vision loss by midlife

Normal balance

- Archua, Kathlynn Mae F.

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1. Genetic Abnormality
Albinism is the lack of pigmentation in hair, skin, and eyes. This disorder is an autosomal recessive disorder.

While there are many types of albinism, it is generally passed on to the offspring in an autosomal recessive inheritance pattern. This means that the child has to obtain 2 copies of the gene that causes albinism(one from each parent). If both parents are carrier of the gene, there is a higher chance that the offspring would most likely have albinism.

The tyrosinase enzyme produced by the TYR gene is required for the synthesis of the melanin pigment. A mutation in this gene causes the most common form of albinism.

2. Incidence
According to an article made by the Cleveland Clinic, albinism may affect people of any race and ethnic groups. In US alone, about one in every 18,000 to 20,000 are diagnosed with albinism while one in every 3,000 people are affected in other parts of the world.

3. Clinical Features
Homozygouse recessive(aa) individuals make no melanin pigments - which is why their face, hair and eyes appear white to yellow.

They may also suffer from conditions like Strabismus or being crossed eye. They may also have rapid eye movements and are generally very sensitive to light.

Some patients encounter blood disorders, bruising issues, and lung, kidney or bowl diseases. Some types of albinism also manifest immune and neurological issues.

-Kristine Jane Valenzona

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1. Genetic Abnormality
Tay-Sachs disease is a rare, inherited disorder that is characterized by neurological problems due to the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord resulting to the death of nerve cells (neurons) in the brain and spinal cord (central nervous system). It is  an autosomal recessive disorder caused by an alteration in the HEXA gene on chromosome 15.

2. Incidence
It is a very rare disease in general population with a carrier rate of approximately 1 in 250-300 people. Incidence is higher among people of eastern European (Ashkenazi) Jewish descent.

3. Clinical Features

Infantile form

"Cherry-red" spots in the eyes

Loss of motor skills, including turning over, crawling and sitting up

Muscle weakness, progressing to paralysis

Seizures

Vision loss and blindness

Hearing loss and deafness

Loss of mental functions and a lack of response to surroundings

Growth in head size (progressive macrocephaly)

Juvenile form

Behavior problems

Slow loss of vision and speech

Frequent respiratory infections

Seizures

Late Onset/Adult form

Muscle weakness

Clumsiness and loss of coordination

Tremors and muscle spasms

Loss of the ability to walk

Problems speaking and swallowing

Psychiatric disorders

Sometimes loss of mental function

- Sollano, Jerald Reno G.

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1. Genetic Abnormality
Thalassemia is an autosomal recessive disorder.

For context, hemoglobin is made up of two proteins, the alpha and beta globin. Thalassemia occurs when the gene that helps control the production of one of these proteins is defective.

There are two types of thalassemia: alpha and beta thalassemia. Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or mutated. Beta thalaseemia, on the other hand, occurs when genetic defects similar to that of alpha thalassemia affect the production of the beta globin protein.

2. Incidence
Thalassemia affects approximately 4.4 out of every 10,000 live births throughout the world and it has no preference for gender. Alpha thalassemias occur most often in people from Southeast Asia, Middle East, China, and in those of African descent. Beta thalassemias, on the other hand, occur most often in people of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and African Americans can be affected.

3. Clinical Features
Signs and symptoms of thalassemia include:
• Fatigue
• Weakness
• Pale or yellowish skin
• Facial bone deformities
• Slow growth
• Abdominal swelling
• Dark urine

Other manifestations of thalassemia may include:
• Failure to thrive in early childhood

• Anemia

• Hepatosplenomegaly
• Hypersplenism

• Fractures due to marrow expansion and abnormal bone structure

• Generalized skeletal osteoporosis

Seares, Vera Therese D.

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1. Genetic Abnormality
PKU is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene copy and one abnormal gene copy, they will be a carrier for the condition, but will not have symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk is the same for males and females. More than 300 different changes (mutations) in the PKU gene have been identified. Because the different mutations result in varying degrees of PAH enzyme activity, and therefore varying degrees of phenylalanine elevation in blood, the diet of each child must be adjusted to the individual’s specific phenylalanine tolerance.

2. Incidence
The occurrence of PKU varies among ethnic groups and geographic regions worldwide. The overall worldwide prevalence of the disease is 6.002 per 100,000 neonates (95% confidence interval, 5.07-6.93)

3. Clinical features

A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body

Neurological problems that may include seizures

Skin rashes (eczema)

Fair skin and blue eyes, because phenylalanine can't transform into melanin — the pigment responsible for hair and skin tone

Abnormally small head (microcephaly)

Hyperactivity

Intellectual disability

Delayed development

Behavioral, emotional and social problems

Psychiatric disorders

-RIVERA, MARELLE ERIKA C.

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1. Genetic Abnormality

Wolf-Hirschhorn syndrome (WHS) or also called as 4p- syndrome/ Pitt-Rogers-Danks syndrome/ monosomy 4p. It is a very rare chromosomal condition caused by a missing segment of the short arm of chromosome 4 (partial deletion or monosomy).

2. Incidence

Since it’s a very rare disorder, several studies for over 25 years suggested that WHS occurred in only 1/50,000 of the population with a female to male ration of 2:1.

3. Clinical Features

Broadening and prominence of the region between the brows at the top of their nose (the glabella). Characterized by big, wide-spaced eyes, arched eyebrows, and a diminutive lower face, which includes a short upper lip and a tiny mouth and jaw. Lack of indentation of the nasal bridge

Other typical findings include: microcephaly; eye variances (turning in or out of the eyes, drooping eyelids, eye deformities); cleft lip and/or palate; abnormalities of the penis, testicles, or vagina; abnormalities of the kidneys; issues with bones; problems with teeth.

- Dela Cruz, Mary Kimberlei

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1. Genetic Abnormality
There are currently 15 reported genes associated with Fanconi Anemia: FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG (also called XRCC9), FANCI, FANCJ (also called BRIP1/ BACH1), FANCL, FANCM, FANCN (also called PALB2), FANCO (also called RAD51C), and FANCP (also called SLX4). Patients with FA typically have biallelic mutations or deletions in one of these genes. The mode of inheritance is autosomal recessive except for FANCB, which is X-linked recessive. Mutations in the FANCA gene occur with the highest frequency. The relationship between mutations in the genes and disease pathology is not clear. Cells are highly susceptible to chromosome breakage after exposure to DNA cross-linking agents.

2. Incidence
Fanconi Anemia has a prevalence of 1 to 5 cases per million. The carrier rate is 1 in 300 in the United States and Europe, with a threefold higher prevalence in Ashkenazi Jews and South Africans. It is the most common among inherited aplastic anemias.

3. Clinical Features
Patients with Fanconi Anemia have variable features and symptoms. Physical malformations may be present at birth, though hematologic abnormalities may not appear until older childhood or adulthood. Furthermore, only two-thirds of patients have physical malformations. These anomalies vary considerably, though there is a higher frequency of skeletal abnormalities such as thumb malformations, and scoliosis; skin pigmentation; short stature; and abnormalities of the eyes, kidneys, and genitals. Low birth weight and developmental delay are also common.

Roa, Jiahn Jasper M.

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1. Genetic Abnormality
Gaucher disease is an autosomal recessive disorder. It is due to mutation in the gene that encodes glucocerebrosidase, GBA1 which is located on chromosome 1q21. A lipid called glucocerebroside cannot be degraded due to the problems with the enzyme.

Three types of the disease is recognized:

Type 1- does not affect the nervous system and appear early in life; mild

Type 2- affect the nervous system; causes serious medical problems in infants

Type 3- affect the nervous system; progress slowly than type 2

2. Incidence

1 in 50,000- 1 in 100,000 in general population

type 1 is more frequent in Ashkenazi Jewish decent

type 1 present in 1 to 500- 1 in 1,000

1 in 14 Ashkenazi Jewish is a carrier

type 2 and 3 are not as common

3. Clinical Features

enlargement of liver and spleen

anemia

easy bruising (thrombocytopenia)

bone disease (pain and fractures

for type 2 and 3, same problems but also involves:

eye problems

seizures

brain damage

skin problems

excessive fluid accumulation

Raesa Camille Siarot

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1. Genetic Abnormality
- Neurofibromatosis type 1 is considered to be inherited in an autosomal dominant pattern. Each cell in a person with this syndrome has one mutant copy of the NF1 gene.

2. Incidence
- Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide.

3. Clinical Features
- Causes skin pigmentation changes and tumor growth along nerves in the skin, brain, and other regions of the body. The signs and symptoms of this illness differ greatly from person to person.
- Almost all have multiple café-au-lait spots at the beginning in their early childhood.
- During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris).
- Most adults have noncancerous (benign) tumors that are usually located on or just under the skin.
- Additional signs and symptoms: hypertension, short stature, macrocephaly, and skeletal abnormalities

Flores, Michael Y.

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1. Genetic Abnormality

There are two types of Alzheimer's-the early and late-onset. Researchers have not found a specific gene that can causes late-onset Alzheimer's disease, but having a genetic variation of the apolipoprotein E (APOE) gene on chromosome 19 does increase a person's risk. The APOE gene is involved in making a protein that helps carry cholesterol and other types of fat in the bloodstream. for the early-onset having any of these single-gene mutations may associate with the early type, namely: Amyloid precursor protein (APP) on chromosome 21, Presenilin 1 (PSEN1) on chromosome 14, and Presenilin 2 (PSEN2) on chromosome 1.

2. Incidence

The incidence of having Alzheimer's Disease is at 70% for the aged group of seniority specifically at age 75 above. In addition, about 1-9% in the age group of 65 and older.

3. Clinical Feature

Showing a wide range of memory loss

Confusion

Inability to know and learn things

Difficulty with language in terms of reading, writing, or even thinking

Difficulty in analyzing logical things

Shortened attention span

Problem coping with new situations

-Duran, John Carlo P.

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1.) Genetic abnormality

Vascular Ehlers-Danlos Syndrome is a genetic disorder that affects the connective tissues and is caused by a mutation in the COL3A1 gene (or sometimes COL1A1) on your long arm of Chromosome 2, which is responsible for making Type III collagen. EDS is autosomal dominant. classical EDS is usually characterized with a hyperflexible joints and stretchy skin, but vEDS is a more serious and fatal type of EDS because it affects the walls of the blood vessels and the uterus.

2.) Incidence

The incidence of true vEDS is actually quite rare, occuring at ranges between range between 1/50 000 and 1/200 000.

This is due to the underdiagnoses of both the symptomatic and the milder form of the disease.

The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide.

3.) Clinical Features

Vascular EDS is often considered to be the most serious type of EDS

The diseases affects the blood vessels and internal organs, which can cause them to ruptire and lead to life-threatening bleeding.

Some of the detectable signs for patients with vEDS are:

Easy bruising on the skin

Thin skin with visible small blood vessels, which are particularly on the upper chest and legs

Fragile blood vessels that can bulge or tear. Hematoma is often seen as a result and may cause in serious internal bleeding

Many risks of organ problems, such as the bowel tearing, the womb tearing (in late pregnancy) and partial collapse of the lung

cEDS signs such as hypermobile fingers and toes, andunusual facial features which are categorical for vEDS (such as a thin nose and lips, large eyes and small earlobes), varicose veins

Delayed wound healing

Castro, Ephraim John C.

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Genetic Abnormality
Familial hypercholesterolemia is an autosomal dominant disorder that causes high levels of LDL (low-density lipoprotein) cholesterol beginning at birth, and heart attacks at an early age.  The altered gene that causes familial hypercholesterolemia is located on chromosome number 19. It contains the information for a protein called LDL receptor  (19p13.2) that is responsible to clear up LDL from the bloodstream.

Incidence
Familial hypercholesterolemia affects an estimated 1 in 200 to 1 in 250 people in most countries and is thought to be the most common inherited condition affecting the heart and blood vessels. The condition occurs even more frequently in certain populations, including Afrikaners in South Africa, Lebanese, and Tunisians.

Clinical Features

High levels of total cholesterol and LDL cholesterol.

A strong family history of high levels of total and LDL cholesterol and/or early heart attack.

Elevated and therapy-resistant levels of LDL in either or both parents.

Xanthomas (waxy deposits of cholesterol in the skin or tendons).

Xanthelasmas (cholesterol deposits in the eyelids).

Corneal arcus (cholesterol deposit around the cornea of the eye).

If angina (chest pain) is present, it may be a sign that heart disease is present.

- Vilbestre, Christian Niño Jay N.

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1. Genetic Abnormality

Hemophilia is an X-linked recessive hereditary disorder. It involves changes or mutations on the X chromosome, particularly on genes F8 and F9. These mutations will cause a deficiency in a patient's proteins known as the clotting factors.

Depending on the type of hemophilia, the type of clotting factor affected will vary, for example, hemophilia A is caused by a deficiency in factor VIII, hemophilia B is caused by a deficiency in factor IX, and hemophilia C is caused by a deficiency in factor XI.

2. Incidence

According to the CDC, Hemophilia A affects 1 in 5000 male births and 400 babies are born with hemophilia each year.

Hemophilia A is more prevalent than Hemophilia B since it affects 80-85% of the total hemophilia population.

Incidence of hemophilia is higher in geographical areas wherein there is a practice of consanguineous marriages. This is due to the X-linked recessive nature of the disease.

The estimated number of people living with hemophilia worldwide is 400,000

3. Clinical Features

Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles.

Bleeding into the skin or muscle and soft tissue causes a build-up of blood in the area

Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.

Bleeding after circumcision

Bleeding after having shots, such as vaccinations.

Bleeding in the head of an infant after a difficult delivery.

Blood in the urine or stool.

Frequent and hard-to-stop nosebleeds.

Cabase, Elijah

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1. Genetic Abnormality

Down syndrome is an inherited disorder that is caused by trisomy 21 in which the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This condition is caused by abnormal cell division during the development of the sperm cell or the egg cell.

2. Incidence

According to WHO, the estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide.

3.Clinical Features

People who inherited this condition possesses low muscle tone, small stature, and a single deep crease across the center of the palm.

Facial appearance is flattened, outside corners of the eyes that point upward (upward slanting palpebral fissures ), small ears, a short neck , and a tongue that tends to stick out of the mouth.

Mental impairment, abnormal teeth, stunted growth, umbilical hernia, congenital heart disease, abnormal pelvis, and big toes widely spaced.

- Roble, Sheina

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Genetic Abnormality

Edward’s syndrome is also known as Trisomy 18, 47,XY, +18. It is a rare but serious condition. A baby with Edwards' syndrome has 3 copies of chromosome number 18 instead of 2. This affects the way the baby grows and develops. Most babies with Edwards' syndrome will die before or shortly after being born.

Incidence

1/3,000 babes born alive with Edward’s syndrome will live past their 1st birthday

Clinical Features

Clinical features usually depend on whether they have full, mosaic, or partial Edward’s syndrome. But commonly, the manifest Severe, clenched fist with survival less than 1 year.

Full Edward’s syndrome:

Extra chromosome 18 is present in all cells.

The effects of full Edward's syndrome are often more severe.

Most babies with this form will die before they are born.

Mosaic Edward’s syndrome:

Also known as Mosaic Trisomy 18

Have an extra chromosome 18 in just some cells.

Lead to milder effects of the condition, depending on the number and type of cells that have the extra chromosome. Most babies with this type of Edward's syndrome who are born alive will live for at least a year, and they may live to adulthood.

Partial Edward’s syndrome

A very small number of babies with Edwards' syndrome (about 1 in 100) have only a section of the extra chromosome 18 in their cells, rather than a whole extra chromosome 18.

Trocio, Angelika C.

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1. Genetic Abnormality

Fragile X syndrome (FXS) is a genetic disorder caused by a change to a gene on the X-chromosome called the FMR1 gene

2. Incidence

FXS affects approximately 1 in 2500-4000 males and 1 in 7000-8000 females

3. Clinical Feature

FXS is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females.

Affected males may also present with large, protruding ears, long face, high-arched palate, hyperextensible finger joints, double-jointed thumbs, flat feet, soft skin, and postpubescent macroorchidism

- Belciña, Jean F.

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1. Genetic Abnormality

A genetic condition wherein a male has 2 or more X chromosomes (47, XXY, 48, XXXY, or 49, XXXXY).

2. Incidence

It occurs in 1 of every 500 or 1000 male births, making it one of the most common human sex chromosome disorders.

3. Clinical Features

They have small, soft testes that produce few sperm or are sterile due to seminiferous tubules atrophy.

There is low libido and impotence.

Only sparse pubic, axillary, and chest hair can be found.

Most would have small IQ points ranging between 10 to 15.

A blood test would show high gonadotropin and low testosterone levels.

Other clinical presentation include scoliosis, varicose veins, leg ulcers, emphysema, diabetes mellitus, and thyroid problems.

- Mancao, Bryan S.

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1. Genetic Abnormality

It is caused by mutations in gene 7q31.2 which results to a disruption of the normal production and function of the CF transmembrane conductance regulator (CFTR) protein. The CFTR protein is essential because it helps to maintain the balance of salt and water on the surfaces of the human body such as the lungs.

2. Incidence

Cystic Fibrosis is an autosomal recessive disease that occurs in 1 of every 2,500–3,500 live births in most Caucasian and European ancestry with a lesser incidence rate in other ethnic groups such as Africans and Asians.

3. Clinical Feature

The disease causes the build-up of very thick, sticky mucus in organs such as the lungs and pancreas. Because of this, people who have Cystic Fibrosis find it difficult to breathe and often have frequent respiratory infections. Other clinical presentations include very salty sweat, loose or oily stools, slow growth in children, and the inability to gain weight despite having good appetite and appropriate intake of calories.

- Roble, Eliza A.

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1. Genetic Abnormality

This condition is characterized by a missing or partially missing X chromosome of the females. There is no presence of Barr bodies.

2. Incidence

This occurs in 1 in 2000 to 3000 liveborn female births. However, its epidemiology is still unknown.

3. Clinical Feature

Its features include heart shaped face, webbed neck, small mandible, high-arched palate with overcrowding teeth, low set ears, low hairline, widely spaced nipples, and short fingers and toes.  Breasts, pubic hair and menstruation are usually absent. Atrophy of ovary progresses after birth.

- Enad, Angelie Jane T.

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1. Genetic Abnormality

DMD is an inherited X-liked disease in a recessive pattern that has a defect on Xp21 locus, a specific locus on the short arm of the X-chromosomes. This happens when the gene production of dystrophin which is associated with the inner side of the membrane of cardiac and skeletal muscles are affected. Manifest mostly in males while the females that have a defective gene present on one of their X chromosomes are carriers for this disorder.

2. Incidence

According to CDC, DMD is a rare muscle disorder but has an estimated prevalence of 1 in every 7,250 males aged 5 – 24 years worldwide. Other literature states that the birth prevalence is estimated to be 1 in every 3,500 live male births. The age of onset is usually between 3 and 5 years of age. Duchenne muscular dystrophies as a whole are estimated to affect 250,000 individuals in the United States.

3. Clinical Features

Its clinical features include the following: toe walking, an unusual waddling manner of walking (gait), difficulty climbing stairs or rising from a sitting position (Gower’s sign), abnormal enlargement of the calves due to scarring of muscles (pseudohypertrophy), Tachypnea or bradypnea, decreased chest expansion, lordosis, scoliosis, calf muscle hypertrophy, foot drop, tight heel cord, backward bending of the knee, and muscle atrophy in thighs and buttock.

Specifically,

Early childhood: develop weakness and wasting (atrophy) of the muscles closest to the trunk (proximal muscles) such as those of the upper legs and pelvic area and upper arms and shoulder area,  muscle weakness and atrophy spread to affect the lower legs, forearms, neck, and trunk

Children with DMD: toe walking, an unusual waddling manner of walking (gait), difficulty climbing stairs or rising from a sitting position (Gower’s sign), and repeated falling

Toddlers and young children may seem awkward and clumsy and may exhibit abnormal enlargement of the calves due to scarring of muscles (pseudohypertrophy). Additional abnormalities may develop such as progressive curvature of the spine (scoliosis or lordosis), wasting of thigh and pectoral muscles, and abnormal fixation of certain joints (contractures).

Late teens: weakness and deterioration of the heart muscle (cardiomyopathy), weakness and deterioration of muscles in the rib cage, increased susceptibility to respiratory infections, difficulty coughing, and, respiratory failure.

- Lorica, Nicole Angelique A.

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1. Genetic abnormality
Huntington's disease is a degenerative brain disease caused by a single defective gene on chromosome 4. This is a "dominant" condition, which means that anyone who inherits it from a parent who has Huntington's disease would eventually have the disease. Huntingtin is a protein that is coded for by the faulty gene. The normal function of this protein is unknown, but it's known as "huntingtin" since its faulty form is linked to Huntington's disease. Defective huntingtin protein causes atypical involuntary movements, a significant reduction in reasoning and thinking skills, as well as irritability, depression, and other mood disorders.

2. Incidence
The worldwide service-based prevalence of HD, based on a meta-analysis (n = 13 studies), was 2.71 per 100,000 (95% CI: 1.55-4.72). Eleven studies were conducted in Europe, North American, and Australia, with an overall prevalence of 5.70 per 100,000 (95% CI: 4.42-7.35).

3. Clinical Features
- Involuntary jerking or writhing movements (chorea)
- Muscle problems, such as rigidity or muscle contracture (dystonia)
- Slow or abnormal eye movements
- Impaired gait, posture and balance
difficulty concentrating and memory lapses
- depression

- Arriesgado, Ashley M.

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1. Genetic abnormality
It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.

2.  Incidence
In the general population, the carrier rate for Tay-Sacks disease is approximately 1 in 250-300 people.

3. Characteristics
There are three types of this disease, first, infants with this disorder typically develop normally until they are 3 to 6 months old. During this time, their development slows and muscles used for movement weaken. Affected infants stop achieving normal developmental milestones and begin to lose previously acquired skills such as turning over, sitting, and crawling. Infants with this condition develop an exaggerated startle reaction to loud noises.
Second, and third, is also known as juvenile and late-onset, and is rare. Signs and symptoms of the juvenile form can appear between the ages of 5 years and late adolescence. Features of late-onset Tay-Sachs disease typically appear in adulthood. People with either of these forms of the condition usually have milder and more variable signs and symptoms than those with the infantile form. Characteristic features of juvenile or late-onset Tay-Saches disease include muscle weakness, loss of muscle coordination (ataxia), speech problems, and psychiatric symptoms. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.

- Yagong, Justine Marie F.

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1. Genetic Abnormality

Mutations in the FBN-1 gene on chromosome 15q21.1 cause connective tissue disorder. Fibrillin-1 (FBN-1) is a structural component of extracellular matrix microfibrils that is lacking in this condition.

2. Incidence

One in 10,000 to 20,000 people has Marfan Syndrome. It's an autosomal dominant condition, which means that people who have it have a 50% chance of passing it on to their offspring.

3. Clinical Feature

People suffering from the diseases are very tall and have a thin body frame. Their arms and legs are excessively long, making them appear out of proportion. Their joints are extremely brittle and easily dislocate. Their face is long and narrow. Their chest protrudes or stretch down. They also have crowded teeth and an abnormal spine curvature. They have vision problems as a result of a dislocated lens, as well as heart problems as a result of weak tissue in their heart valves. It raises the risk of asthma, pneumonia, and lung collapse.

Hernandez, Cathleen M.