Barber-Say Syndrome
Classification according to ICD-10 | |
---|---|
Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
ICD-10 online (WHO version 2019) |
The Barber-Say syndrome is a very rare congenital disease with a combination of abnormally increased hair growth ( hypertrichosis ), atrophy of the skin, deformity of an eyelid ( ectropion ) and overly broad mouth ( Macrostomia ).
The name refers to the first description by N. Barber and colleagues from 1982.
distribution
The frequency is given as less than 1 in 1,000,000, so far only about 10 patients have been described. The exact type of inheritance has not yet been determined; an autosomal dominant inheritance is suspected.
Clinical manifestations
Clinical criteria are:
- Congenital generalized hypertrichosis
- Abnormal face with a wide bridge of the nose, forward nostrils, thin lips, thin or missing eyebrows and eyelids, hypertelorism , macrostomy,
- Ectropion on both sides
- Malformed ears
- Cutis laxa , hypoplasia of the nipples and mammary glands .
- Delayed tooth eruption
Differential diagnosis
In addition to other forms of dermatochalasis, the clinically similar ablepharon macrostomy syndrome must be differentiated; it may be changes in the same gene.
literature
- K. Szakszon, E. Berényi, A. Jakab, B. Bessenyei, E. Balogh, T. Köbling, J. Szilvássy, AC Knegt, E. Oláh: Blepharophimosis mental retardation syndrome Say-Barber / Biesecker / Young-Simpson type - new findings with neuroimaging. In: American journal of medical genetics. Part A. Vol. 155 A, No. 3, March 2011, ISSN 1552-4833 , pp. 634-637, doi: 10.1002 / ajmg.a.33837 , PMID 21344633 .
- F. Martins, KL Ortega, C. Hiraoka, P. Ricardo, M. Magalhães: Oral and dental abnormalities in Barber-Say syndrome. In: American journal of medical genetics. Part A. Vol. 152 A, No. 10, October 2010, ISSN 1552-4833 , pp. 2569-2573, doi: 10.1002 / ajmg.a.32898 , PMID 20830793 .
Individual evidence
- ↑ a b c d Barber-Say syndrome. In: Orphanet (Rare Disease Database).
- ↑ N. Barber, B. Say, RF Bell, and OC Merveille: Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation. In: Syndrome Identification , Vol. 8, No. 1, pp. 6-9, 1982.
- ↑ MB Dinulos, RA Pagon: Autosomal dominant inheritance of Barber-Say syndrome. In: American journal of medical genetics. Vol. 86, No. 1, September 1999, ISSN 0148-7299 , pp. 54-56, PMID 10440829 .
Web links
- Barber-Say Syndrome. In: Online Mendelian Inheritance in Man . (English)
- Y. Uteza: Paupières, Appareil lacrymal et Conjonctives. ( Memento from November 13, 2014 in the Internet Archive )