lethal osteosclerotic bone dysplasia
Findings
No curated finding names lethal osteosclerotic bone dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
Definition from the Mondo Disease Ontology (MONDO:0009821), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
25 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.
- Increased bone mineral densityHPOHP:0011001
- 7 of 7 reported patients
- Subperiosteal bone formationHPOHP:0031485
- 7 of 7 reported patients
- Thoracic hypoplasiaHPOHP:0005257
- 6 of 7 reported patients
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Large fontanelles
Show the remaining 13
- RetrognathiaHPOHP:0000278
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Cerebral calcificationHPOHP:0002514
- 3 of 4 reported patients
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Gingival fibromatosisHPOHP:0000169
- Frequent (30% to 79% of cases)
- Gingival overgrowthHPOHP:0000212
- Frequent (30% to 79% 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.
- FAM20CHGNC:22140
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: lethal osteosclerotic bone dysplasia
- Also called
- osteomalacia, sclerosing, with cerebral calcificationosteosclerotic bone dysplasia, lethalRAINE syndrome