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This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]GeneCards Summary for COL2A1 Gene 

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This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]GeneCards Summary for COL2A1 Gene 

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collagen type ii alpha 1 (primary osteoarthritis spondyloepiphyseal dysplasia congenital)

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COL2A1 Gene - GeneCards | CO2A1 Protein | CO2A1 Antibody

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Complete information for COL2A1 gene (Protein Coding), Collagen Type II Alpha 1 Chain, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

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Severe micromelic (abnormal smallness of one or more limbs) dwarfism with a small chest and prominent abdomen

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Achondrogenesis is a rare and severe group of genetic disorders that results in a short trunk, small limbs, and a narrow chest. It occurs when a person's body does not produce enough growth hormone. As a result, cartilage and bone don't develop properly, causing abnormalities in the skeletal system.

You're more likely to have a child with this disorder if both you and your partner carry the gene. Most babies with achondrogenesis die before or right after birth because they can't breathe properly. No treatments exist for the disorder. Care focuses on making the baby as comfortable as possible for the duration of their life.

This disorder is usually categorized into three different types based on the pattern of inheritance, signs, and symptoms.

Type 1A

In achondrogenesis type 1A, the baby's skull bone is very soft and the limbs are very short. As with all three types, the chest is narrow, making it hard for the baby to breathe. The bones in the spine and pelvis don't form well. The baby also has short ribs that break easily.

Type 1B

Type 1B is very similar to 1A, and distinguishing between the two types often requires a genetic test. In addition to the very short limbs and narrow chest, type 1B includes a round belly and sometimes a pouch near the groin or belly button. If your baby has this type of achondrogenesis, their feet may be inwardly rotated. The toes and fingers are also very short.

Type 2

As with the other two types, babies born with type 2 achondrogenesis have short limbs and a narrow chest. Their ribs are usually short and their lungs aren't well developed. The bones in the spine and pelvis are not well formed. The roof of the mouth may have an opening known as a cleft palate. A small chin and large forehead are other signs. The belly may be large, and some infants will have too much fluid in their bodies before they're born.

According to statistics collected by the National Institute of Health, the occurrence of type 2 achondrogenesis and a similar bone growth disorder called hypochondrogenesis have been observed in one in every 40,000 to 60,000 infants.

This rare disorder is hereditary. If both you and your partner carry the gene, there is a 25-percent chance that your child will have the condition. Since the genetic disorder is recessive, the parental carriers of the gene show no signs of the condition.

Short limbs and a narrow chest are common to all types of achondrogenesis. The other symptoms vary by type. Genetic testing may be necessary to distinguish the exact type.

Type 1A Symptoms

soft skull bone

poorly formed spine and pelvic bones

short and easily breakable ribs

Type 1B Symptoms

round belly

pouch near the belly button

short toes and fingers

inwardly rotated feet

Type 2 Symptoms

short ribs

poorly developed lungs

cleft palate

small chin

large forehead and belly

Your doctor will order X-rays to examine your baby's bones. Usually, the signs are obvious to the human eye, and your doctor will know right away if your baby has some type of the condition.

No treatments exist for achondrogenesis. To keep your baby as comfortable as possible, the hospital will monitor the infant and possibly use a breathing machine. Medication may also be needed to limit pain and discomfort.

Babies born with achondrogenesis usually die quickly because their small chests don't allow them to breathe. Many die in utero.

If achondrogenesis exists in your family, your only option for preventing the disorder is to have genetic counseling prior to starting a family. During genetic counseling, a specialist will collect your medical histories, asking about illnesses that have occurred on both sides of your families. Medical practitioners will run tests to determine whether you and your partner are carrying the genes for achondrogenesis. Couples with a family history of achondrogenesis might choose to exercise this option before deciding whether or not to have a baby.

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Achondrogenesis: Types, Causes, and Symptoms

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Achondrogenesis is a rare and severe group of genetic disorders that results in a short trunk, small limbs, and a narrow chest. It occurs when a person's body does not produce enough growth hormone. As a result, cartilage and bone don't develop properly, causing abnormalities in the skeletal system.

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This is caused by a heterozygous mutation in COL2A(stands for Collagen Type 2, Alpha 1 chain) gene on chromosome 12q13. Most severe condition on the spectrum of COL2A1 mutation.

Autosomal dominant trait, also occurs as a new mutation. You do not need it as part of the heritage line.

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The head and torso are the same but the limbs are short.

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Prominent forehead and small chin, abdomen is enlarged.

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According to statistics collected by the National Institute of Health, the occurrence of type 2 achondrogenesis and a similar bone growth disorder called hypochondrogenesis have been observed in one in every 40,000 to 60,000 infants.

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Achondrogenesis: Types, Causes, and Symptoms

As with the other two types, babies born with type 2 achondrogenesis have short limbs and a narrow chest. Their ribs are usually short and their lungs arenâ€™t well developed. The bones in the spine and pelvis are not well formed. The roof of the mouth may have an opening known as a cleft palate. A small chin and large forehead are other signs. The belly may be large, and some infants will have too much fluid in their bodies before they re born.