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Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Explore symptoms, inheritance, genetics of this condition.

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NORD (National Organization for Rare Disorders)

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Angelman syndrome is associated with a broad spectrum of possible symptoms. The specific symptoms of Angelman syndrome vary from person to person. Individuals with Angelman syndrome will not have all of the symptoms discussed below. For example, some individuals with Angelman syndrome may have seizures, others may not. Most may be unable to speak while in a few there is some limited speech.

Children with Angelman syndrome experience delays in reaching developmental milestones (developmental delays) and have severe learning disabilities. Children with Angelman syndrome also have significant communication difficulties. Most children do not develop the ability to speak more than a few words. Children usually can understand simple commands. Older children and adults may be able to communicate through gesturing and or using communication boards.

An early finding in most children with Angelman syndrome is a movement or balance abnormality that includes jerky movements due to an inability to coordinate voluntary movements (ataxia). Children with Angelman syndrome may hold their arms up with the wrists and elbows bent and may flap their hands repeatedly when walking or excited. Diminished muscle tone (hypotonia) of the trunk, increased muscle tone (hypertonia) of the arms and legs, and abnormally exaggerated or brisk reflex responses (hyperreflexia) may also occur. Some children with Angelman syndrome experience subtle tremors of the arms and legs. These movement disorders may be apparent early during infancy (approximately 6-12 months of age). Motor milestones (e.g., walking) are usually delayed. In mild cases, children may begin to walk at 2-3 years of age. In more severe cases, walking may be noticeably slow, stiff and jerky. Some children may not be able to walk until they are 5-10 years of age. In approximately 10 percent of cases, children with Angelman syndrome do not walk unaided.

Infants and children with Angelman syndrome have a distinct behavioral pattern marked by a happy demeanor with frequent and often inappropriate episodes of unprovoked, prolonged laughter and smiling. Children with Angelman syndrome may be easily excited, hypermotoric and hyperactive. They are active explorers and often may appear to be constantly in motion.

Individuals with Angelman syndrome may have microcephaly in which the circumference of the head is smaller than would normally be expected for a child's age and weight. In many cases, epileptic seizures may also occur. Seizures usually begin between one and five years of age and often improve by adolescence.

Some findings associated with Angelman syndrome occur less often than the above-mentioned symptoms. In some cases, individuals with Angelman syndrome may have distinctive facial features including a prominent chin, deep-set eyes, an abnormally wide mouth (marcostomia) with a protruding tongue, widely-spaced teeth and an abnormally flat back of the head (brachycephaly).

Feeding problems may occur during infancy often as a result of poor sucking ability. Infants with Angelman syndrome may also have swallowing difficulties. Feeding problems associated with Angelman syndrome are usually not severe. Children or adults with Angelman syndrome may experience constipation or gastroesophageal reflux disorder (GERD), a condition characterized by backflow (reflux) of the contents of stomach or small intestines into the tube that connects the mouth to the stomach (esophagus).

Additional findings include excessive drooling, crossed eyes (strabismus), lack of normal color of the (hypopigmentation) of the skin, eyes and hair due to lack of certain melanin pigments. This lack of pigment in the eye may cause sensitivity to light (photophobia), rapid, involuntary eye movements (nystagmus) and decreased clarity of vision (visual acuity). Sleep disturbances such as a decreased need for sleep and disrupted or abnormal sleep/wake cycles (e.g., awaking at night or rising earlier than normal) are frequent findings in children with Angelman syndrome. Children with Angelman syndrome may also have a fascination with water, love music, and be attracted to shiny objects. Some children may have an increased sensitivity to heat. As children with Angelman syndrome age, progressive side-to-side curvature of the spine (scoliosis) may become apparent. Puberty is usually unaffected in children with Angelman syndrome and fertility is possible.

Adults with Angelman syndrome may have more pronounced facial features such as a more prominent lower jaw (mandibular prognathism). Some individuals may develop abnormal protrusion of the cornea (keratoconus). Mobility may decrease as some individuals grow older and stiffening of the joints (contractures) may also develop. Some older children and adults may be prone to obesity.

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Angelman Syndrome - NORD (National Organization for Rare Disorders)

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Angelman syndrome is associated with a broad spectrum of possible symptoms. The specific symptoms of Angelman syndrome vary from person to person. Individuals with Angelman syndrome will not have all of the symptoms discussed below. For example, some individuals with Angelman syndrome may have seizures, others may not.

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View Sources & References

The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.

Reference: Access aggregated data from Orphanet at Orphadata. Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997.

Reference: Download data from HPO. Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207-D1217.

Data from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease. Data from the National Library of Medicine's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing. Content References:
National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press.

U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience.

Last Updated: Nov. 8, 2021

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View Sources & References The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.