Brachyolmia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 1293
OMIM Id: 113500
271530
271630
601216
613678
ICD-10: Q76.3
UMLs: C0432228
MeSH: C537098
MedDRA:
Snomed: 254088006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondylodysplastic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck 345 / 7739
2
 (HPO:0000540) Hypermetropia 99 / 7739
3
 (HPO:0002808) Kyphosis 289 / 7739
4
 (HPO:0100864) Short femoral neck 36 / 7739
5
 (HPO:0001552) Barrel-shaped chest 31 / 7739
6
 (HPO:0008922) Childhood-onset short-trunk short stature 4 / 7739
7
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
8
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
9
 (HPO:0009466) Radial deviation of finger 101 / 7739
10
 (HPO:0002650) Scoliosis 705 / 7739
11
 (HPO:0003411) Proximal femoral metaphyseal irregularity 7 / 7739
12
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
13
 (HPO:0030084) Clinodactyly 90 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (HPO:0002176) Spinal cord compression 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: