microcephalic osteodysplastic primordial dwarfism type II
Findings
No curated finding names microcephalic osteodysplastic primordial dwarfism type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of microcephalic primordial dwarfism (MPD) 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.
Definition from the Mondo Disease Ontology (MONDO:0008872), read 2026-09-29. CC BY 4.0.
Features
53 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 epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the earlobesHPOHP:0009906
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
Show the remaining 41
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Narrow pelvis boneHPOHP:0003275
- Very frequent (80% to 99% of cases)
- Prominent noseHPOHP:0000448
- Very frequent (80% to 99% of cases)
- Tooth agenesisHPOHP:0009804
- Very frequent (80% to 99% of cases)
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.
- PCNTHGNC:16068
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: microcephalic osteodysplastic primordial dwarfism type II
- Also called
- Majewski osteodysplastic primordial dwarfism type IIMOPD type II