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.

Postaxial polydactyly

A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.

Total: 2

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PMID (PMCID)
9098491	FEMALE	Infant, Newborn
	Elejalde syndrome: a case report.
	Thornton CM, Stewart F. Am J Med Genet. 1997;69(4):406-8.
	Elejalde syndrome is a rare condition comprising a high birth weight, swollen globular body, a short neck with redundant skin folds, postaxial polydactyly, omphalocele, enlarged liver and kidneys, and renal dysplasia.
8055141	MALE
	An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia).
	Nevin NC, Herron B, Armstrong MJ. Clin Dysmorphol. 1994;3(2):180-4.
	We describe a fourth case of Elejalde's syndrome (acrocephalopolydactylous dysplasia) in an 18 week fetus which had the typical features of craniosynostosis, gross oedema, short limbs, postaxial polydactyly, redundant connective tissue and cystic renal dysplasia.