osteocraniostenosis
Findings
No curated finding names osteocraniostenosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Definition from the Mondo Disease Ontology (MONDO:0011215), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypocalcemiaHPOHP:0002901
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- MicropenisHPOHP:0000054
- 3 of 5 reported patients
- HydrocephalusHPOHP:0000238
- 2 of 5 reported patients
- AspleniaHPOHP:0001746
- 1 of 5 reported patients
- Failure to thriveHPOHP:0001508
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.
- FAM111AHGNC:24725
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: osteocraniostenosis
- Also called
- gracile bone dysplasiaOsteocraniosplenic syndrome