Chondrodysplasia punctata due to X-linked deletion
| Classification according to ICD-10 | |
|---|---|
| Q77.3 | Chondrodysplasia Punctate Syndromes |
| ICD-10 online (WHO version 2019) | |
The chondrodysplasia punctata by X-chromosomal deletion is a special form of a chondrodysplasia punctata , wherein the deletions on the short arm of the X chromosome are causal. Usually further deletions occur on other genes .
Synonyms are: chondrodysplasia with brachytelephalangia; X-linked chondrodysplasia punctata; Aryl sulfatase E deficiency; English X-linked recessive chondrodysplasia punctata; Chondrodysplasia Punctata 1, X-Linked; CDPX1
The disease belongs to the deletion syndromes and was described in 1984 by the Californian pediatrician C. Curry et al .
distribution
Few patients have been described to date. The inheritance is X-linked - recessive .
root cause
The disease are mutations in the ASS - gene on the X chromosome locus p22.33 based encoding arylsulfatase.
Clinical manifestations
Characteristic features are:
- Hypoplasia of the terminal phalanges
- atypical ichthyosis
- significantly increased cholesterol sulfate
- Nasal hypoploplasia
- Short stature
- mental disability
- Microcephaly
- Congenital cataract
- Symmetrical calcifications of the epiphyses , paravertebral and paratracheal in the radiograph .
literature
- A. Ballabio, M. Zollo, R. Carrozzo, A. Caiulo, O. Zuffardi, CF Cascioli, D. Viggiano, P. Strisciuglio: Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature , chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. In: American journal of medical genetics. Vol. 41, No. 2, November 1991, pp. 184-187, doi: 10.1002 / ajmg.1320410210 , PMID 1785631 .
- D. Bick, CJ Curry, JR McGill, DF Schorderet, RC Bux, CM Moore: Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. In: American journal of medical genetics. Vol. 33, No. 1, May 1989, pp. 100-107, doi: 10.1002 / ajmg.1320330114 , PMID 2750777 .
Web links
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ Chondrodysplasia punctata, brachytelephalangeal type. In: Orphanet (Rare Disease Database).
- ↑ C. Curry et al .: Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X-chromosome. In: New England Journal of Medicine. 1984, Vol. 311, pp. 1010-1015.
- ↑ Chondrodysplasia punctata, X-linked recessive. In: Online Mendelian Inheritance in Man . (English)
- ↑ CDPX1. In: Online Mendelian Inheritance in Man . (English)
