vertebral hypersegmentation and orofacial anomalies
MONDO:0030871Mondo
Findings
No curated finding names vertebral hypersegmentation and orofacial anomalies 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
- Congenital onset
HPO, annotations 2026-09-02
Features
20 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.
- Supernumerary ribsHPOHP:0005815
- 5 of 6 reported patients
- Inguinal herniaHPOHP:0000023
- 3 of 6 reported patients
- Six lumbar vertebraeHPOHP:0008416
- 3 of 6 reported patients
- Thickened helicesHPOHP:0000391
- 5 of 12 reported patients
- Unilateral cleft lipHPOHP:0100333
- 2 of 6 reported patients
- Unilateral cleft palateHPOHP:0100334
- 2 of 6 reported patients
- Prominent occiputHPOHP:0000269
- 1 of 5 reported patients
- Widow's peakHPOHP:0000349
- 1 of 5 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 6 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 6 reported patients
- Darwin tubercle of helixHPOHP:0011261
- 1 of 6 reported patients
- EpicanthusHPOHP:0000286
- 1 of 6 reported patients
Show the remaining 8
- Joint hypermobilityHPOHP:0001382
- 1 of 6 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 6 reported patients
- Midface retrusionHPOHP:0011800
- 1 of 6 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 6 reported patients
- Pes planusHPOHP:0001763
- 1 of 6 reported patients
- Scapular wingingHPOHP:0003691
- 1 of 6 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.
- GDF11HGNC:4216
- Strong · G2P · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: vertebral hypersegmentation and orofacial anomalies
- Also called
- VHO