WEILL-MARCHESANI-LIKE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 613195
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008063) Aplasia/Hypoplasia of the lens 3 / 7739
2
(HPO:0000501) Glaucoma 180 / 7739
3
(HPO:0001142) Lenticonus 4 / 7739
4
(HPO:0011527) Lentiglobus 3 / 7739
5
(HPO:0001083) Ectopia lentis 45 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Lenticular myopia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Morales et al. (2009) described 8 individuals, 6 from 2 Saudi Arabian families and 2 sporadic cases, who displayed many of the key features of Weill-Marchesani syndrome (WMS; see 277600), including lenticular myopia, ectopia lentis, glaucoma, spherophakia, and ...
Molecular genetics OMIM In 4 affected sibs from a consanguineous Saudi Arabian family with a Weill-Marchesani-like syndrome, Morales et al. (2009) identified homozygosity for a 1-bp insertion in the ADAMTS17 gene (607511.0001) that fully segregated with the phenotype. Screening the ADAMTS17 ...