microcephalic osteodysplastic primordial dwarfism types I and III
Findings
No curated finding names microcephalic osteodysplastic primordial dwarfism types I and III yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.
Definition from the Mondo Disease Ontology (MONDO:0016994), read 2026-09-29. CC BY 4.0.
Features
74 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 circulating calcium-phosphate regulating hormone concentrationHPOHP:0100530
- Very frequent (80% to 99% of cases)
- Abnormal distal phalanx morphology of fingerHPOHP:0009832
- Very frequent (80% to 99% of cases)
- Abnormal finger morphologyHPOHP:0001167
- Very frequent (80% to 99% of cases)
- Abnormal intervertebral disk morphologyHPOHP:0005108
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
Show the remaining 62
- Abnormally ossified vertebraeHPOHP:0100569
- Very frequent (80% to 99% of cases)
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- Aplasia/hypoplasia of the femurHPOHP:0005613
- Very frequent (80% to 99% of cases)
- Aplastic clavicleHPOHP:0006660
- Very frequent (80% to 99% of cases)
- Bifid femurHPOHP:0010443
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
Where it sits
Other names
3 names
Resolves to: microcephalic osteodysplastic primordial dwarfism types I and III
- Also called
- microcephalic osteodysplastic primordial dwarfism, Taybi-Linder typeMOPD types I and IIIprimordial microcephalic dwarfism, Crachami type