EPIPHYSEAL DYSPLASIA, BAUMANN TYPE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr:
OMIM Id: 610797
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003799) Marked delay in bone age 5 / 7739
2
 (HPO:0001388) Joint laxity 117 / 7739
3
 (HPO:0100807) Long fingers 23 / 7739
4
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
5
 (HPO:0009465) Ulnar deviation of finger 48 / 7739
6
 (HPO:0010048) Aplasia of metacarpal bones 6 / 7739
7
 (HPO:0008802) Hypoplasia of the femoral head 6 / 7739
8
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
9
 (HPO:0003275) Narrow pelvis bone 8 / 7739
10
 (HPO:0002857) Genu valgum 144 / 7739
11
 (HPO:0009196) Absent metacarpal epiphyses 1 / 7739
12
 (HPO:0004097) Deviation of finger 13 / 7739
13
 (HPO:0001763) Pes planus 176 / 7739
14
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
15
 (HPO:0004231) Carpal bone aplasia 5 / 7739
16
 (HPO:0001507) Growth abnormality 36 / 7739
17
 (OMIM) Mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae) 2 / 7739
18
 (OMIM) Long fingers with squared tips 1 / 7739
19
 (OMIM) Normal stature 7 / 7739
20
 (OMIM) Small joint laxity 2 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: