Dysplastic cortical hyperostosis, Al-Gazali type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare dysplastic cortical hyperostosis characterized by brachycephaly, short, poorly modeled tubular bones with wide diaphysis and smooth, rounded metaphyses, extremities with severe brachydactyly and facial dysmorphism (including flat face, hypertelorism and low-set ears). Additional clinical features include hypoplastic thorax and hypertrichosis. Histology of the bone tissue and the growth plate are normal. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysplastic cortical hyperostosis, Al-Gazali type | |
| fr | Hyperostose corticale dysplasique type Al-Gazali | |
| de | Dysplastische kortikale Hyperostose Typ Al-Gazali | |
| es | Hiperostosis cortical displásica tipo Al-Gazali | |
| it | Iperostosi corticale displastica tipo Al-Gazali | |
| nl | Dysplastische corticale hyperostose, Al-Gazali type | |
| pt | Hiperostose cortical displásica, tipo Al-Gazali | |
| pl | Dysplastyczna hiperostoza korowa typu Al-Gazali | |
| cs | Dysplastická kortikální hyperostóza, typu Al-Gazali | |
| uk | Диспластичний кортикальний гіперостоз, тип Аль-Газалі |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601356 | E | validated | |
| ICD-10 | M85.8 | NTBT | attributed | validated |
| MONDO | 0011051 | E | validated | |
| UMLS | C5816699 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:646139Dysplastic cortical hyperostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
31 annotations · validated 2025-07-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009106 | Abnormal pelvis bone ossification | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000885 | Broad ribs | |
| HP:0031096 | Delayed vertebral ossification | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0005789 | Generalized osteosclerosis | |
| HP:0000316 | Hypertelorism | |
| HP:0000239 | Large fontanelles | |
| HP:0009826 | Limb undergrowth | |
| HP:0001561 | Polyhydramnios | |
| HP:0004482 | Relative macrocephaly | |
| HP:0010034 | Short 1st metacarpal | |
| HP:0009381 | Short finger | |
| HP:0001773 | Short foot | |
| HP:0000470 | Short neck | |
| HP:0001831 | Short toe | |
| HP:0200055 | Small hand | |
| Frequent (79-30%) | ||
| HP:0001789 | Hydrops fetalis | |
| HP:0000998 | Hypertrichosis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001387 | Joint stiffness | |
| HP:0011800 | Midface retrusion | |
| HP:0000926 | Platyspondyly | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001072 | Thickened skin | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0003038 | Fibular hypoplasia | |
| HP:0002645 | Wormian bones | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 36896612[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/646136
- This record as JSON: /data/d/646136.json