Zlotogora-Ogur Syndrome
Classification according to ICD-10 | |
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Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
ICD-10 online (WHO version 2019) |
The Zlotogora-Ogur syndrome is a very rare congenital sub-form of ectodermal dysplasia with the main characteristics of facial abnormalities, cleft lip and palate , dental abnormalities, syndactyly and intellectual disability .
Synonyms are: cleft lip and palate - syndactyly - pili torti; Cleft lip and palate ectodermal dysplasia syndrome; Syndactyly - ectodermal dysplasia - cleft lip and palate; Zlotogora-Zilberman-Tenenbaum Syndrome; Dysplasia, ectodermal, Margarita Island type; English CLEFT Lip / Palate-Ectodermal Dysplasia Syndrome; CLPED1
The name refers to the first authors of the first description from 1994 by the Israeli human geneticist Joel Zlotogora .
distribution
The frequency is unknown; around 50 people have been reported to be affected. Inheritance is autosomal - recessive .
root cause
The disease is based on mutations in the PVRL1 (NECTIN1) gene on chromosome 11 locus q23.3, which codes for the nectin-1 receptor.
Clinical manifestations
Clinical criteria are:
- sparse coiled hair, also eyebrows
- Hypohidrosis , dry skin, hyperkeratosis
- abnormal teeth, hypodontia to missing teeth
- Facial abnormalities, auricles, micrognathia , cleft lip and palate on both sides.
- Syndactyly of the fingers and toes, possibly nail dystrophy
In addition, there can be intellectual disabilities, hearing loss , abnormalities in the nipples , urinary and sexual organs and others.
Differential diagnosis
The EEC syndrome and the Rosselli-Gulienetti syndrome are to be distinguished .
literature
- ES Rodini, A. Richieri-Costa: Autosomal recessive ectodermal dysplasia, cleft lip / palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. In: American journal of medical genetics , Volume 36, No. 4, August 1990, pp. 473-476, doi: 10.1002 / ajmg.1320360420 , PMID 2167611 .
Web links
Individual evidence
- ↑ a b c Zlotogora-Ogur syndrome. In: Orphanet (Rare Disease Database).
- ↑ Dysplasia, ectodermal, Margarita Island type. In: Orphanet (Rare Disease Database).
- ↑ J. Zlotogora: Syndactyly, ectodermal dysplasia, and cleft lip / palate. In: Journal of medical genetics , Volume 31, No. 12, December 1994, pp. 957-959, PMID 7891379 , PMC 1016698 (free full text).
- ↑ Cleft lip / palate-ectodermal dysplasia syndrome. In: Online Mendelian Inheritance in Man . (English)