X-linked recessive chondrodysplasia punctata

X-linked recessive chondrodysplasia punctata
Classification and external resources
ICD-10	Q77.3
OMIM	302950
DiseasesDB	34567
GeneReviews	Chondrodysplasia Punctata 1, X-Linked Recessive

X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.^[1]:500

It has been associated with arylsulfatase E.^[2]

See also

• Skin lesion

References

1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
2. ^ Nino M, Matos-Miranda C, Maeda M, et al. (April 2008). "Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata". Am. J. Med. Genet. A 146A (8): 997–1008. doi:10.1002/ajmg.a.32159. PMID 18348268. 

This Genodermatoses article is a stub. You can help Wikipedia by expanding it.v · Categories: Genodermatoses Enzyme defects Genodermatoses stubs Wikimedia Foundation. 2010. Игры ⚽ Поможем сделать НИР Conradi–Hünermann syndrome Ellis–van Creveld syndrome Look at other dictionaries: Chondrodysplasia punctata — Classification and external resources ICD 10 Q77.3 DiseasesDB 32527 …   Wikipedia chondrodysplasia punctata — a heterogeneous group of bone dysplasias whose common characteristic is stippling of the epiphyses in infancy. There are a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi HÑŒnermann syndrome), and a… …   Medical dictionary Rhizomelic chondrodysplasia punctata — Classification and external resources ICD 10 Q77.3 ICD 9 277.86 …   Wikipedia chondrodysplasia — SYN: chondrodystrophy. [chondro + G. dys, bad, + plasis, a molding] c. calcificans congenita [MIM*118650] autosomal dominant inheritance characterized by asymmetric calcifications and dysplastic skeletal changes, less frequent occurrence of… …   Medical dictionary Jansen's metaphyseal chondrodysplasia — Classification and external resources ICD 9 756.9 OMIM 156400 DiseasesDB …   Wikipedia List of diseases (C) — A list of diseases in the English wikipedia.C* C syndrome * C1 esterase deficiency (angioedema)CaCac Cal* Cacchi Ricci disease * CACH syndrome * Cafe au lait spots syndrome * Caffey disease * CAHMR syndrome * Calcinosis cutis (see also CREST… …   Wikipedia List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… …   Wikipedia Arylsulfatase E — (chondrodysplasia punctata 1) Identifiers Symbols ARSE; CDPX; CDPX1; CDPXR; MGC163310 External IDs …   Wikipedia Conradi–Hünermann syndrome — Conradi Hünermann syndrome Classification and external resources ICD 10 Q77.3 ICD 9 756.59 …   Wikipedia CPXR — chondrodysplasia punctata, X linked recessive …   Medical dictionary 18+ © Academic, 2000-2024 Contact us: Technical Support, Advertising Dictionaries export, created on PHP, Joomla, Drupal, WordPress, MODx. Mark and share Search through all dictionaries Translate… Search Internet Share the article and excerpts Direct link … Do a right-click on the link above and select “Copy Link”