orofaciodigital syndrome V
Findings
No curated finding names orofaciodigital syndrome V yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
Definition from the Mondo Disease Ontology (MONDO:0008267), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
58 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.
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Cutaneous syndactylyHPOHP:0012725
- 1 of 1 reported patient
- Dental malocclusionHPOHP:0000689
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Frontal bossingHPOHP:0002007
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Generalized-onset seizure
Show the remaining 46
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- Mandibular prognathiaHPOHP:0000303
- 1 of 1 reported patient
- Prominent fingertip padsHPOHP:0001212
- 1 of 1 reported patient
- Recurrent subcortical infarctsHPOHP:0007236
- 1 of 1 reported patient
- Thick eyebrowHPOHP:0000574
- 1 of 1 reported patient
- Postaxial polydactylyHPOHP:0100259
- 9 of 11 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.
- DDX59HGNC:25360
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: orofaciodigital syndrome V
- Also called
- OFD5oral-facial-digital syndrome type 5orofaciodigital syndrome type 5orofaciodigital syndrome type Vorofaciodigital syndrome, Thurston typepolydactyly postaxial with median cleft of upper lipThurston syndrome