lethal short-limb skeletal dysplasia, Al Gazali type
MONDO:0011051Mondo
Findings
No curated finding names lethal short-limb skeletal dysplasia, Al Gazali type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
31 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 pelvis bone ossificationHPOHP:0009106
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad ribsHPOHP:0000885
- Very frequent (80% to 99% of cases)
- Delayed vertebral ossificationHPOHP:0031096
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Generalized osteosclerosisHPOHP:0005789
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- Very frequent (80% to 99% of cases)
- Limb undergrowthHPOHP:0009826
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Relative macrocephalyHPOHP:0004482
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Short 1st metacarpalHPOHP:0010034
- Very frequent (80% to 99% of cases)
- Short fingerHPOHP:0009381
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short toeHPOHP:0001831
- Very frequent (80% to 99% of cases)
- Small handHPOHP:0200055
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: lethal short-limb skeletal dysplasia, Al Gazali type
- Also called
- dysplastic cortical hyperostosis, Al-Gazali type