opsismodysplasia
MONDO:0009785Mondo
Findings
No curated finding names opsismodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0009785), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- Delayed epiphyseal ossificationHPOHP:0002663
- 8 of 8 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Metaphyseal cuppingHPOHP:0003021
- 9 of 9 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Severe platyspondylyHPOHP:0004565
- 3 of 3 reported patients
Show the remaining 41
- Short phalanx of fingerHPOHP:0009803
- 9 of 9 reported patients
- ProptosisHPOHP:0000520
- 7 of 8 reported patients
- Shallow orbitsHPOHP:0000586
- 7 of 8 reported patients
- HypophosphatemiaHPOHP:0002148
- 5 of 6 reported patients
- Renal phosphate wastingHPOHP:0000117
- 5 of 6 reported patients
- Abnormal epiphysis morphologyHPOHP:0005930
- 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.
- INPPL1HGNC:6080
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of