Auriculoosteodysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 114
OMIM Id: 109000
ICD-10:
UMLs: C1862381
MeSH: C538271
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal 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:0009907) Attached earlobe 2 / 7739
2
(HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
3
(HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
4
(HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
5
(HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
6
(HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
7
(HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
8
(HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
9
(HPO:0003083) Dislocated radial head 35 / 7739
10
(HPO:0003019) Abnormality of the wrist Occasional [Orphanet] 52 / 7739
11
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
(OMIM) Extra small, slightly posterior ear lobule 1 / 7739
13
(OMIM) Multiple osseous dysplasia 1 / 7739
14
(HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
15
(OMIM) Radiocapitellar joint dysplasia 1 / 7739
16
(OMIM) Elongated attached ear lobe 1 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Characteristic ear shape 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Beals (1967) gave this designation to a syndrome that he observed in many members of 2 families. Multiple osseous dysplasia, characteristic ear shape, and somewhat short stature were features. Dysplasia of the radiocapitellar joint, with or without radial-head ...