Acrocephalopolysyndactyly type I [Acrocephalopolysyndactylia; acrocephaly + polydactyly) + syndactyly; syn. Noaka syndrome] is a hereditary disease characterized by acrocephaly (flattening and elongation of the head), syndactyly (fusion of the toes) and duplication of enlarged big toes. The disease is inherited in an autosomal dominant manner and is a rare genetic disorder.
The main symptoms of acrocephalopolysyndactyly type I:
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Acrocephaly - the skull is wedge-shaped due to premature fusion of the craniofacial sutures.
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Polysyndactyly of the feet - doubling and increasing the size of the big toes.
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Syndactyly is the fusion of fingers and toes.
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High forehead, small chin.
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Hypertelorism is an increased distance between the eyes.
This rare genetic disease was first described in 1971 by the Brazilian geneticist P. Noaka. Acrocephalopolysyndactyly type I is extremely rare, predominantly in Hispanic populations. Treatment consists of surgical correction of deformities and rehabilitation of patients. The prognosis for the life and health of patients is generally favorable.