Branchiogenic deafness syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Mégarbané-Loiselet syndrome
Number of Symptoms 32
OrphanetNr: 50815
OMIM Id: 609166
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000211) Trismus 9 / 7739
2
 (HPO:0100272) Branchial sinus 1 / 7739
3
 (HPO:0009795) Branchial fistula 4 / 7739
4
 (HPO:0009796) Branchial cyst Very frequent [Orphanet] 32 / 7739
5
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
6
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
7
 (HPO:0000483) Astigmatism Very frequent [Orphanet] 67 / 7739
8
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
9
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
10
 (HPO:0011390) Morphological abnormality of the inner ear Very frequent [Orphanet] 21 / 7739
11
 (HPO:0008544) Abnormally folded helix Very frequent [Orphanet] 24 / 7739
12
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
13
 (HPO:0004467) Preauricular pit 39 / 7739
14
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
15
 (HPO:0000405) Conductive hearing impairment 164 / 7739
16
 (HPO:0009912) Abnormality of the tragus Very frequent [Orphanet] 12 / 7739
17
 (HPO:0004452) Abnormality of the middle ear ossicles Very frequent [Orphanet] 26 / 7739
18
 (HPO:0000384) Preauricular skin tag Very frequent [Orphanet] 62 / 7739
19
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
20
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
21
 (HPO:0000372) Abnormality of the auditory canal Very frequent [Orphanet] 49 / 7739
22
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
23
 (HPO:0000410) Mixed hearing impairment 22 / 7739
24
 (HPO:0001760) Abnormality of the foot 96 / 7739
25
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
26
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
27
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
29
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
30
 (OMIM) Bony erosions (5th finger) 1 / 7739
31
 (OMIM) Pointed phalanx (5th finger) 1 / 7739
32
 (OMIM) Internal auditory canal hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Megarbane et al. (2003) described a brother and sister, offspring of consanguineous parents in a Sunni Muslim community in Lebanon, who presented with an apparently distinct syndrome consisting of congenital hearing loss, meatal atresia, preauricular tags and pits, ...