Bilateral microtia - deafness - cleft palate

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 140963
OMIM Id: 612290
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000175) Cleft palate 349 / 7739
2
 (HPO:0008551) Microtia 98 / 7739
3
 (HPO:0000410) Mixed hearing impairment 22 / 7739
4
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
 (OMIM) Incomplete atretic plate 1 / 7739
6
 (OMIM) Malformed ossicular chain 1 / 7739
7
 (OMIM) Hearing loss, mixed, mild to severe (in heterozygotes) 1 / 7739
8
 (OMIM) Cleft palate, partial (in homozygotes) 1 / 7739
9
 (OMIM) Severe narrowing of cartilagenous auditory canal 1 / 7739
10
 (OMIM) Hearing loss, prelingual, severe to profound (affecting all frequencies) 1 / 7739
11
 (OMIM) Near-stenosis of bony portion of auditory canal 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Alasti et al. (2008) examined 3 of 4 affected members of a consanguineous Iranian family who had bilateral microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. The helix, tragus, and antitragus were seen in ...
Molecular genetics OMIM In a consanguineous Iranian family with microtia, hearing impairment, and cleft palate, Alasti et al. (2008) identified homozygosity for a missense mutation in the HOXA2 gene (604685.0001). The unaffected parents were heterozygous for the mutation, which was not ...