Acrocephalopolydactyl dysplasia

Classification according to ICD-10
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Akrozephalopolydaktyle dysplasia or even after their Erstbeschreiber Elejalde syndrome called is a very rare congenital malformation syndrome characterized by increased birth weight, massive body with skin thickening, organ enlargement and fibrosis .

Epidemiology

Inheritance is autosomal - recessive . The frequency is given as less than one in a million.

clinic

The disease manifests itself in the neonatal period with polydactyly , omphalocele , enlargement of the liver and spleen and kidney dysplasia , a short neck with increased skin folds and a noticeably high birth weight.

Furthermore, skull deformation, e.g. B. Tower skulls occur as a result of premature seam closure.

See also

Not to be confused with acrocephalopolydactyl dysplasia is Elejalde's disease or neuroectodermal melanolysosomal disease .

literature

• SR Phadke, S. Aggarwal, N. Kumari: The expanding spectrum of Elejalde syndrome: overlap with other disorders of overgrowth. In: Clinical dysmorphology. Volume 20, Number 2, April 2011, pp. 98-101, ISSN  1473-5717 . doi : 10.1097 / MCD.0b013e32833edace . PMID 21164339 .

Individual evidence

1. ^ BR Elejalde, C. Giraldo, R. Jimenez, EF Gilbert: Acrocephalopolydactylous dysplasia. In: Birth defects original article series. Volume 13, Number 3B, 1977, pp. 53-67, ISSN  0547-6844 . PMID 890100 .
2. ^ Acrocephalopolydactyl dysplasia. In: Orphanet (Rare Disease Database).
3. ^ CM Thornton, F. Stewart: Elejalde syndrome: a case report. In: American journal of medical genetics. Volume 69, Number 4, April 1997, pp. 406-408, ISSN  0148-7299 . PMID 9098491 . (Review).
4. ↑ Right diagnosis

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !