brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Findings
No curated finding names brachydactyly-mesomelia-intellectual disability-heart defects syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).
Definition from the Mondo Disease Ontology (MONDO:0015259), read 2026-09-29. CC BY 4.0.
Features
11 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.
- Abnormal mitral valve morphologyHPOHP:0001633
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Abnormal shoulder morphologyHPOHP:0003043
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- Also called
- Stratton-Garcia-Young syndrome