Weill-Marchesani syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Weill-Marchesani syndrome is a very rare congenital disease with a combination of short stature, brachydactyly , dental and eye abnormalities.
Synonyms are: spherophakia - brachymorphism; Marchesani Syndrome; Spherophakia brachymorphism; obsolete: mesodermal dysmorphodystrophy; english congenital mesodermal dystrophy; GEMSS syndrome; congenital mesodermal dysmorphodystrophy; WMS; WM syndrome The name refers to the authors of descriptions from 1932 by the Strasbourg ophthalmologist Georges Weill and from 1939 by the German-Austrian ophthalmologist Oswald Marchesani .
distribution
The frequency is given as 1 in 100,000, the inheritance is done in an autosomal dominant or autosomal - recessive .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- WMS 1 , autosomal - recessive mutations in the ADAMTS10 - gene on chromosome 19 locus P13.2, which for the ADAMST10 protein encoded from the family of proteases of the extracellular matrix. Mutations in this gene can also be found in Marfan syndrome and Shprintzen-Goldberg syndrome .
- WMS 2 , autosomal dominant , mutations in the FBN1 gene on chromosome 15 locus q21.1, which codes for fibrillin-1.
- WMS 3 , autosomal recessive, mutations in the LTBP2 gene on chromosome 14 locus q24.3, which codes for the latent transforming growth factor beta-binding protein 2.
Clinical manifestations
Clinical criteria are:
- Short stature
- Eye malformations: small spherical lens (microsphaerophakia), myopia , lens ectopy , glaucoma , cataract
- Jaw malformations: irregular position and shape of the teeth , narrow high palate, hypoplasia of the upper jaw
- Skeletal malformations: brachydactyly with wide short metacarpal / metatarsal bones, joint stiffening
- thickened skin
- Cardiac malformations: pulmonary , aortic valve stenosis , mitral regurgitation , persistent ductus arteriosus , ventricular septal defect
Differential diagnosis
Must be distinguished is the Akromikrische dysplasia and Geleophysische dwarfism .
literature
- C. Paya, C. Andrèbe, V. Coste, H. Chan, C. Schweitzer, JF Korobelnik: Imagerie multi-modale d'une fermeture de l'angle liée à une sphérophaquie dans un syndrome de Weill-Marchesani. In: Journal francais d'ophtalmologie. Vol. 38, No. 10, December 2015, pp. 1019-1020, doi: 10.1016 / j.jfo.2015.04.015 , PMID 26549137 .
- H. Steinkellner, J. Etzler, L. Gogoll, J. Neesen, E. Stifter, O. Brandau, F. Laccone: Identification and molecular characterization of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. In: European journal of human genetics: EJHG. Vol. 23, No. 9, September 2015, pp. 1186–1191, doi: 10.1038 / ejhg.2014.264 , PMID 25469541 , PMC 4538198 (free full text)
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 .
- ↑ a b c d Weill-Marchesani syndrome. In: Orphanet (Rare Disease Database).
- ↑ G. Weill: ectopia you cristillins et malformations generales. In: Annales d'Oculistique (Paris) Vol. 169, 1932, pp. 21-44.
- ↑ O. Marchesani: Brachydactyly and congenital spherical lens as a systemic disease. In: Klinische Monatsblätter Augenheilkunde Vol. 103, 1939, pp. 392-406.
- ↑ Who named it
- ^ Genetics Home Reference
- ↑ Weill-Marchesani syndrome 1, recessive. In: Online Mendelian Inheritance in Man . (English)
- ^ Weill-Marchesani syndrome 2, dominant. In: Online Mendelian Inheritance in Man . (English)
- ↑ Weill-Marchesani syndrome 3, recessive. In: Online Mendelian Inheritance in Man . (English)
