pelvis-shoulder dysplasia
MONDO:0008217Mondo
Findings
No curated finding names pelvis-shoulder dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.
Definition from the Mondo Disease Ontology (MONDO:0008217), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
45 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.
- Multiple skeletal anomaliesHPOHP:0005775
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- Absent proximal finger flexion creasesHPOHP:0006077
- Frequent (30% to 79% of cases)
- Acetabular dysplasiaHPOHP:0008807
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
Show the remaining 33
- Bilateral microphthalmosHPOHP:0007633
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Dislocated radial headHPOHP:0003083
- Frequent (30% to 79% of cases)
- Facial hirsutismHPOHP:0009937
- Frequent (30% to 79% of cases)
- Fifth finger distal phalanx clinodactylyHPOHP:0005769
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: pelvis-shoulder dysplasia
- Also called
- Kosenow syndromeScapuloiliac dysostosis