De Barsy Syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The de Barsy syndrome or de Barsy-Moens-Dierckx syndrome is a very rare congenital disorder characterized by the combination of sagging, less elastic skin (Cutis Laxa), corneal opacity and mental retardation and is the cutis laxa syndromes expected .

Synonyms are progeria syndrome of the de Barsy type . , Cutis laxa autosomal recessive type IIIa ; ARCL3a , Progeroid Syndrome of De Barsy .

Epidemiology

The frequency is given as less than 1: 1,000,000, inheritance is autosomal - recessive . Only a few cases have been described so far.

clinic

Characteristic features of the syndrome are downwardly directed eyelids, wide and flat bridge of the nose and a small mouth with an overall pre-aged appearance, furthermore cutis laxa , hyperextensible joints, increased tendon reflexes and growth retardation already beginning in the womb combined with reduced mental development. In addition, there are large fontanels that close late, corneal opacity and cataracts.

diagnosis

The diagnosis can be made through a skin biopsy - but not in all affected persons.

Differential diagnosis

Clinically, the following can usually be distinguished on the basis of the eye anomalies, the athetosis and the increased reflexes:

Type 2 autosomal recessive cutis laxa (ARCL2)
Wrinkly Skin Syndrome
Geroderma osteodysplastica

therapy

A causal treatment is not known; symptomatically, early eye surgery and physiotherapy to avoid contractures are possible.

literature

D. Guerra, C. Fornieri, B. Bacchelli, L. Lugli, P. Torelli, F. Balli, P. Ferrari: The De Barsy syndrome. In: Journal of Cutaneous Pathology . Volume 31, Number 9, October 2004, ISSN 0303-6987 , pp. 616-624, doi: 10.1111 / j.0303-6987.2004.00241.x , PMID 15330994 .
J. Kunze, F. Majewski, P. Montgomery, A. Hockey, I. Karkut, T. Riebel: De Barsy syndrome - an autosomal recessive, progeroid syndrome. In: European Journal of Pediatrics. Volume 144, Number 4, November 1985, ISSN 0340-6199 , pp. 348-354, PMID 4076251 .
T. Riebel: De Barsy-Moens-Dierckx syndrome: observation in siblings. In: Monthly for Pediatrics. Volume 124, Number 2, February 1976, pp. 96-98, PMID 1256459 .

Individual evidence

↑ ^a ^b ^c ^d ^e ^f De Barsy syndrome. In: Orphanet (Rare Disease Database).
^ De Barsy syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ EC Kivuva, MJ Parker, MC Cohen, BE Wagner, G. Sobey: De Barsy syndrome: a review of the phenotype. In: Clinical dysmorphology. Volume 17, Number 2, April 2008, ISSN 0962-8827 , pp. 99-107, doi: 10.1097 / MCD.0b013e3282f4a964 , PMID 18388779 . (Review).

[Orpha-1] ↑ ^a ^b ^c ^d ^e ^f De Barsy syndrome. In: Orphanet (Rare Disease Database).

[2] De Barsy syndrome. In: Online Mendelian Inheritance in Man . (English)

[3] EC Kivuva, MJ Parker, MC Cohen, BE Wagner, G. Sobey: De Barsy syndrome: a review of the phenotype. In: Clinical dysmorphology. Volume 17, Number 2, April 2008, ISSN 0962-8827 , pp. 99-107, doi: 10.1097 / MCD.0b013e3282f4a964 , PMID 18388779 . (Review).