Coxoauricular syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 1508
OMIM Id: 122780
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with multiple joint dislocations
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000372) Abnormality of the auditory canal Very frequent [Orphanet] 49 / 7739
2
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
3
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
4
 (HPO:0008551) Microtia 98 / 7739
5
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
6
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
7
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
8
 (HPO:0002827) Hip dislocation 94 / 7739
9
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
10
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (OMIM) Minor vertebral and pelvic changes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: