Zlotogora-Ogur Syndrome

Classification according to ICD-10
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

• Rare Diseases
• Right diagnosis

Individual evidence

1. ↑ ^{a b c} Zlotogora-Ogur syndrome. In: Orphanet (Rare Disease Database).
2. ↑ Dysplasia, ectodermal, Margarita Island type. In: Orphanet (Rare Disease Database).
3. ↑ 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).
4. ↑ Cleft lip / palate-ectodermal dysplasia syndrome.  In: Online Mendelian Inheritance in Man . (English)

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 !