otopalatodigital syndrome type 2
Findings
No curated finding names otopalatodigital syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
Definition from the Mondo Disease Ontology (MONDO:0010571), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
68 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.
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Bowing of the long bonesHPOHP:0006487
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Dilatation of the sinus of ValsalvaHPOHP:0011645
- 1 of 1 reported patient
- Elbow contractureHPOHP:0034391
- 1 of 1 reported patient
Show the remaining 56
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- 1 of 1 reported patient
- Spina bifidaHPOHP:0002414
- 1 of 1 reported patient
- Ulnar bowingHPOHP:0003031
- 1 of 1 reported patient
- Umbilical herniaHPOHP:0001537
- 1 of 1 reported patient
- Widow's peakHPOHP:0000349
- 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.
- FLNAHGNC:3754
- Definitive · G2P · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2020
- Moderate · Genomics England PanelApp · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: otopalatodigital syndrome type 2
- Also called
- OPD 2 syndromeOPD II syndromeOPD syndrome 2Otopalatodigital Syndrome Type I and IIotopalatodigital syndrome, type II, X-linked dominant