multiple epiphyseal dysplasia, Al-Gazali type
Findings
No curated finding names multiple epiphyseal dysplasia, Al-Gazali type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0011778), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
32 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.
- ClinodactylyHPOHP:0030084
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 5 of 5 reported patients
- Enlarged jointsHPOHP:0003037
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Epiphyseal dysplasiaHPOHP:0002656
- 5 of 5 reported patients
- Flattened epiphysisHPOHP:0003071
- 5 of 5 reported patients
- Frontal bossingHPOHP:0002007
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 20
- Pectus excavatumHPOHP:0000767
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- 5 of 5 reported patients
- Tapered fingerHPOHP:0001182
- 5 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- Delayed epiphyseal ossificationHPOHP:0002663
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.
- KIF7HGNC:30497
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: multiple epiphyseal dysplasia, Al-Gazali type
- Also called
- multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome