Majewski's polydactyly syndrome

Autosomal recessive - en

Majewski's polydactyly syndrome is a rare genetic disorder characterized by the presence of extra fingers or toes (polydactyly), along with other physical abnormalities. This condition is named after the Polish geneticist Friedrich Majewski, who first described it.

Clinical Features[edit | edit source]

Individuals with Majewski's polydactyly syndrome typically exhibit the following clinical features:

Polydactyly: Extra digits on the hands and/or feet.
Syndactyly: Fusion of fingers or toes.
Short stature: Below-average height for age and sex.
Microcephaly: Smaller than normal head size.
Craniofacial abnormalities: These may include a prominent forehead, a broad nasal bridge, and a small jaw (micrognathia).

Genetics[edit | edit source]

Majewski's polydactyly syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in this syndrome have not been definitively identified.

Diagnosis[edit | edit source]

Diagnosis of Majewski's polydactyly syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing may be used to confirm the diagnosis and to identify carriers of the gene mutation.

Management[edit | edit source]

There is no cure for Majewski's polydactyly syndrome. Management of the condition focuses on addressing the symptoms and may include:

Surgical correction of polydactyly and syndactyly.
Supportive therapies for developmental delays and other associated conditions.
Regular monitoring and medical care to manage any complications.

Prognosis[edit | edit source]

The prognosis for individuals with Majewski's polydactyly 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.