Weill-Marchesani syndrome

MONDO:0018096Mondo

Findings

No curated finding names Weill-Marchesani syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

Definition from the Mondo Disease Ontology (MONDO:0018096), read 2026-09-29. CC BY 4.0.

Features

21 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
High myopiaHPOHP:0011003
- Very frequent (80% to 99% of cases)
MicrospherophakiaHPOHP:0030961
- Very frequent (80% to 99% of cases)
Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Short thumbHPOHP:0009778
- Very frequent (80% to 99% of cases)
Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
Ectopia lentisHPOHP:0001083
- Frequent (30% to 79% of cases)
Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
Thickened skinHPOHP:0001072
- Frequent (30% to 79% of cases)
Aortic valve stenosisHPOHP:0001650
- Occasional (5% to 29% of cases)
CataractHPOHP:0000518
- Occasional (5% to 29% of cases)

Show the remaining 9

Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
Joint stiffnessHPOHP:0001387
- Occasional (5% to 29% of cases)
Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
Mitral regurgitationHPOHP:0001653
- Occasional (5% to 29% of cases)
Patent ductus arteriosusHPOHP:0001643
- Occasional (5% to 29% of cases)
Prolonged QTc intervalHPOHP:0005184
- Occasional (5% to 29% of cases)

Genes

3 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

ADAMTS10HGNC:13201
- Supportive · Orphanet · Autosomal dominant · 2021
FBN1HGNC:3603
- Supportive · Orphanet · Autosomal dominant · 2021
LTBP2HGNC:6715
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: acromelic dysplasia
autosomal genetic disease
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
syndromic disease
Narrower terms (4): Weill-Marchesani 4 syndrome, recessive
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 2, dominant
Weill-Marchesani syndrome 3

Other names

2 names

Resolves to: Weill-Marchesani syndrome

Also called: spherophakia-brachymorphia syndromeWeill Marchesani Syndrome