branchiogenic deafness syndrome
Findings
No curated finding names branchiogenic deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.
Definition from the Mondo Disease Ontology (MONDO:0012209), read 2026-09-29. CC BY 4.0.
Features
21 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 pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Abnormality of the middle ear ossiclesHPOHP:0004452
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the inner earHPOHP:0008774
- Very frequent (80% to 99% of cases)
- AstigmatismHPOHP:0000483
- Very frequent (80% to 99% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- Branchial cystHPOHP:0009796
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Preauricular skin tagHPOHP:0000384
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Underdeveloped tragusHPOHP:0011272
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: branchiogenic deafness syndrome
- Also called
- MC)garbanC)-Loiselet syndromeMégarbané-Loiselet syndrome