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Start free with EleplanMicrocephalic osteodysplastic primordial dwarfism type II
ORPHA:2637Malformation syndrome
Also called MOPD type II · Majewski osteodysplastic primordial dwarfism type II
What it is
A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
18- Abnormality of epiphysis morphology
- Abnormally high-pitched voice
- Abnormal metaphysis morphology
- Aplasia/Hypoplasia of the earlobes
- Brachydactyly
- Clinodactyly of the 5th finger
- Coxa vara
- Delayed skeletal maturation
- Disproportionate short stature
- Fine hair
- Hypernasal speech
- Hypoplastic iliac wing
- Intrauterine growth retardation
- Microcephaly
- Micromelia
- Narrow pelvis bone
- Prominent nose
- Tooth agenesis
Common30–79%
15These 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.
Gene
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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