Acrocephalopolysyndactyly type 2

Source:http://linkedlifedata.com/resource/umls/id/C1275078

JABL: Craniosynostosis with craniofacial dysmorphism, finger and toe abnormalities, heart defects, growth retardation, and other disorders.,NCI: An extremely rare autosomal recessive inherited syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.

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