orofaciodigital syndrome IV
Findings
No curated finding names orofaciodigital syndrome IV yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
Definition from the Mondo Disease Ontology (MONDO:0009794), read 2026-09-29. CC BY 4.0.
Features
70 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.
- Abnormal gingiva morphologyHPOHP:0000168
- Very frequent (80% to 99% of cases)
- Abnormal joint morphologyHPOHP:0001367
- Very frequent (80% to 99% of cases)
- Abnormal oral frenulum morphologyHPOHP:0000190
- Very frequent (80% to 99% of cases)
- Abnormal oral mucosa morphologyHPOHP:0011830
- Very frequent (80% to 99% of cases)
- Abnormality of eye movementHPOHP:0000496
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- Abnormality of the tongueHPOHP:0000157
- Very frequent (80% to 99% of cases)
- Absent testisHPOHP:0010469
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the mandibleHPOHP:0009118
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the tibiaHPOHP:0005772
- Very frequent (80% to 99% of cases)
- Choanal atresiaHPOHP:0000453
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
Show the remaining 58
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Genu varumHPOHP:0002970
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HamartomaHPOHP:0010566
- Very frequent (80% to 99% 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.
- TCTN3HGNC:24519
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: orofaciodigital syndrome IV
- Also called
- Baraitser-Burn syndromeMohr-Majewski syndromeOFD4oral-facial-digital syndrome type 4orofaciodigital syndrome type 4orofaciodigital syndrome type IV