Elejalde's syndrome

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A disorder (acrocephalopolydactylous dysplasia) in which there is excessive birthweight, a swollen globular body with thick skin, apparently short limbs, polydactyly, acrocephaly, omphalocele, and abnormal facial features. It may be due to a defect in a fibroblast growth factor receptor gene. Elejalde's disease (neuroectodermal melanolysosomal disease) is distinct from Elejalde's syndrome and, like Griscelli syndrome type 1, is caused by mutation in the MYO5A gene that encodes myosin heavy chain 12 (myoxin).

Subjects: Medicine and Health.

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