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Start free with EleplanDysplastic cortical hyperostosis, Al-Gazali type
ORPHA:646136Clinical subtype
What it is
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.
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Signs and symptoms
Very common80–99%
18- Abnormal pelvis bone ossification
- Abnormal pinna morphology
- Brachydactyly
- Broad ribs
- Delayed vertebral ossification
- Depressed nasal bridge
- Generalized osteosclerosis
- Hypertelorism
- Large fontanelles
- Limb undergrowth
- Polyhydramnios
- Relative macrocephaly
- Short 1st metacarpal
- Short finger
- Short foot
- Short neck
- Short toe
- Small hand
Common30–79%
11These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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