Aphalangy-syndactyly-microcephaly syndrome
Aphalangy-syndactyly-microcephaly syndrome is a rare genetic disorder characterized by the presence of microcephaly, syndactyly, and aphalangy. This syndrome is also known as ASMS.
Overview[edit | edit source]
Microcephaly is a medical condition in which the circumference of the head is smaller than normal due to underdevelopment of the brain. Syndactyly refers to the fusion of two or more digits, and aphalangy is the absence of phalanges - the bones in the fingers and toes.
Symptoms[edit | edit source]
The primary symptoms of Aphalangy-syndactyly-microcephaly syndrome include a significantly smaller head size, fused fingers or toes, and missing or underdeveloped bones in the fingers and toes. Additional symptoms may include intellectual disability, growth retardation, and facial abnormalities.
Causes[edit | edit source]
The exact cause of Aphalangy-syndactyly-microcephaly syndrome is currently unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal recessive manner.
Diagnosis[edit | edit source]
Diagnosis of Aphalangy-syndactyly-microcephaly syndrome is typically based on the presence of the characteristic physical features. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation.
Treatment[edit | edit source]
There is currently no cure for Aphalangy-syndactyly-microcephaly syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and surgical intervention for severe syndactyly or aphalangy.
Prognosis[edit | edit source]
The prognosis for individuals with Aphalangy-syndactyly-microcephaly syndrome varies depending on the severity of the symptoms and the presence of additional health problems.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Aphalangy-syndactyly-microcephaly syndrome is a rare disease.
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