frontometaphyseal dysplasia 1
Findings
No curated finding names frontometaphyseal dysplasia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.
Definition from the Mondo Disease Ontology (MONDO:0024550), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Downslanted palpebral fissuresHPOHP:0000494
- 9 of 9 reported patients · Male
- 7 of 11 reported patients · Female
- Hypoplasia of the musculatureHPOHP:0009004
- 9 of 9 reported patients · Male
- 11 of 11 reported patients · Female
- Limited elbow movementHPOHP:0002996
- 9 of 9 reported patients · Male
- 5 of 11 reported patients · Female
- Prominent supraorbital ridgesHPOHP:0000336
- 9 of 9 reported patients · Male
- 10 of 11 reported patients · Female
- 11 of 11 reported patients · Female
- Interphalangeal joint contracture of fingerHPOHP:0001220
- 8 of 9 reported patients · Male
- 10 of 11 reported patients · Female
Show the remaining 5
- Cervical C2/C3 vertebral fusionHPOHP:0004602
- 0 of 11 reported patients · Female
- 3 of 9 reported patients · Male
- CraniosynostosisHPOHP:0001363
- 1 of 9 reported patients · Male
- 0 of 11 reported patients · Female
- Carpal synostosisHPOHP:0009702
- 1 of 11 reported patients · Female
- 0 of 9 reported patients · Male
- Cleft palateHPOHP:0000175
- 1 of 11 reported patients · Female
- 0 of 9 reported patients · Male
- HypertelorismHPOHP:0000316
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.
- FLNAHGNC:3754
- Definitive · G2P · X-linked · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: frontometaphyseal dysplasia 1
- Also called
- FLNA frontometaphyseal dysplasiafrontometaphyseal dysplasia 1, X-linked recessivefrontometaphyseal dysplasia caused by mutation in FLNA