otopalatodigital syndrome type 1
Findings
No curated finding names otopalatodigital syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
Definition from the Mondo Disease Ontology (MONDO:0010704), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
29 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.
- Cleft palateHPOHP:0000175
- 18 of 18 reported patients
- Very frequent (80% to 99% of cases)
- AnodontiaHPOHP:0000674
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Femoral bowingHPOHP:0002980
- 11 of 18 reported patients
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Bowing of the long bonesHPOHP:0006487
- Frequent (30% to 79% of cases)
- Elbow dislocationHPOHP:0003042
- 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.
- FLNAHGNC:3754
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
9 names
Resolves to: otopalatodigital syndrome type 1
- Also called
- OPD 1 syndromeOPD I syndromeOPD syndrome 1OPD1oto-palato-digital syndrome type 1otopalatodigital syndrome, type 1otopalatodigital syndrome, type Iotopalatodigital syndrome, type I, X-linked dominantTaybi syndrome