multiple synostoses syndrome 1
Findings
No curated finding names multiple synostoses syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.
Definition from the Mondo Disease Ontology (MONDO:0008519), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
23 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.
- HypermetropiaHPOHP:0000540
- 4 of 5 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 4 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 3 of 5 reported patients
- Absent proximal finger flexion creasesHPOHP:0006077
- 2 of 5 reported patients
- Proximal fifth finger symphalangismHPOHP:0009177
- 2 of 5 reported patients
- Proximal fourth finger symphalangismHPOHP:0009477
- 2 of 5 reported patients
- PtosisHPO
Show the remaining 11
- Clinodactyly of the 4th toeHPOHP:0011918
- 1 of 5 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 5 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 1 of 5 reported patients
- Hypoplasia of the ulnaHPOHP:0003022
- 1 of 5 reported patients
- Proximal 4th toe symphalangismHPOHP:0100481
- 1 of 5 reported patients
- Proximal 5th toe symphalangismHPOHP:0100482
- 1 of 5 reported patients
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.
- NOGHGNC:7866
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
3 names
Resolves to: multiple synostoses syndrome 1
- Also called
- multiple synostoses syndrome caused by mutation in NOGmultiple synostoses syndrome type 1NOG multiple synostoses syndrome