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

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

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

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

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

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

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

• List of genetic disorders
• Microcephaly
• Syndactyly
• Aphalangy

NIH genetic and rare disease info

• NIH info on Aphalangy-syndactyly-microcephaly syndrome

Aphalangy-syndactyly-microcephaly syndrome is a rare disease.

Aphalangy-syndactyly-microcephaly syndrome Resources
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