Aphalangy-syndactyly-microcephaly syndrome

A rare genetic disorder characterized by limb and cranial abnormalities

Aphalangy-syndactyly-microcephaly syndrome is a rare genetic disorder that affects the development of the limbs and the central nervous system. It is characterized by the absence of certain bones in the fingers and toes (aphalangy), the fusion of fingers or toes (syndactyly), and a smaller than normal head size (microcephaly).

Genetics

Autosomal dominant inheritance pattern

Aphalangy-syndactyly-microcephaly syndrome is typically inherited in an autosomal dominant pattern, which means a single copy of the altered gene in each cell is sufficient to cause the disorder. However, in some cases, the syndrome may occur due to new mutations in the gene and can occur in people with no history of the disorder in their family.

Clinical Features

The primary features of aphalangy-syndactyly-microcephaly syndrome include:

• Aphalangy: The absence of one or more phalanges (bones) in the fingers or toes. This can lead to shortened digits and may affect the function of the hands and feet.
• Syndactyly: The fusion of two or more fingers or toes. This can range from partial to complete fusion and may require surgical intervention to improve function.
• Microcephaly: A significantly smaller head size compared to peers, which can be associated with developmental delays and intellectual disabilities.

Diagnosis

Diagnosis of aphalangy-syndactyly-microcephaly syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as X-rays may be used to assess the extent of limb abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the syndrome.

Management

Management of aphalangy-syndactyly-microcephaly syndrome is symptomatic and supportive. It may involve:

• Surgical intervention: To separate fused digits and improve hand and foot function.
• Physical therapy: To enhance motor skills and improve mobility.
• Developmental support: Including special education services to address learning and developmental challenges.

Prognosis

The prognosis for individuals with aphalangy-syndactyly-microcephaly syndrome varies depending on the severity of the symptoms and the presence of any associated conditions. Early intervention and supportive care can improve the quality of life for affected individuals.

Related pages

• Genetic disorder
• Syndactyly
• Microcephaly
• Autosomal dominant