Acrocephalopolydactyly

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Synonyms: Acrocephalopolydactylous dysplasia | Elejalde acrocephalopolydactyly

An extremely rare lethal autosomal recessive disorder characterized by massive birth weight swollen globular body generalized edema short limbs postaxial polydactyly thick skin facial dysmorphism (slanted palpebral fissures hypertelorism epicanthic folds dysplastic ears) excessive connective tissue renal dysplasia and in some patients organomegaly craniosynostosis with acrocephaly omphalocele cleft palate and cryptorchidism. Fewer than 10 cases have been reported to date.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Acrocephalopolydactyly?

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