deafness-craniofacial syndrome
Findings
No curated finding names deafness-craniofacial syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0007428), read 2026-09-29. CC BY 4.0.
Features
14 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 palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Bifid tongueHPOHP:0010297
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Short lingual frenulumHPOHP:0000200
- Very frequent (80% to 99% of cases)
- Temporal hypotrichosis
Show the remaining 2
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Frequent (30% to 79% of cases)