craniodiaphyseal dysplasia, autosomal dominant
MONDO:0021021Mondo
Findings
No curated finding names craniodiaphyseal dysplasia, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Progressive · Death in adolescence
HPO, annotations 2026-09-02
Features
11 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.
- Choanal stenosisHPOHP:0000452
- 1 of 1 reported patient
- Concave nasal ridgeHPOHP:0011120
- 1 of 1 reported patient
- Cortical sclerosisHPOHP:0005652
- 1 of 1 reported patient
- Craniofacial hyperostosisHPOHP:0004493
- 1 of 1 reported patient
- Craniofacial osteosclerosisHPOHP:0005464
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 1 of 1 reported patient
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- Mandibular prognathiaHPOHP:0000303
- 1 of 1 reported patient
- PapilledemaHPOHP:0001085
- 1 of 1 reported patient
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.
- SOSTHGNC:13771
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: craniodiaphyseal dysplasia, autosomal dominant
- Also called
- CDD