Angel-shaped phalango-epiphyseal dysplasia
Findings
No curated finding names Angel-shaped phalango-epiphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
Definition from the Mondo Disease Ontology (MONDO:0007114), 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 epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Short 1st metacarpalHPOHP:0010034
- Very frequent (80% to 99% of cases)
- Short middle phalanx of fingerHPOHP:0005819
- Very frequent (80% to 99% of cases)
- Short middle phalanx of the 5th fingerHPOHP:0004220
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- Hip dysplasiaHPOHP:0001385
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- GDF5HGNC:4220
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Angel-shaped phalango-epiphyseal dysplasia
- Also called
- ASPED