Autosomal dominant brachyolmia

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYRACHIA
BRACHYOLMIA, AUTOSOMAL DOMINANT
Brachyolmia type 3
Number of Symptoms 19
OrphanetNr: 93304
OMIM Id: 113500
ICD-10: Q76.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Brachyolmia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
TRPV4-related bone disorder
 -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 Very frequent [Orphanet] 289 / 7739
4
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
5
 (HPO:0001552) Barrel-shaped chest 31 / 7739
6
 (HPO:0100864) Short femoral neck 36 / 7739
7
 (HPO:0003411) Proximal femoral metaphyseal irregularity 7 / 7739
8
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
9
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
10
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
11
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
12
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
13
 (OMIM) Normal intelligence 81 / 7739
14
 (OMIM) Birth length normal 15 / 7739
15
 (OMIM) Gibbus 2 / 7739
16
 (OMIM) Marked platyspondyly 1 / 7739
17
 (OMIM) Short stature, disproportionate (short trunk), identifiable in childhood 2 / 7739
18
 (MedDRA:10058668) Clinodactyly 91 / 7739
19
 (HPO:0002176) Spinal cord compression 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brown (1933) described as Morquio disease (see 253000) the condition in a mother and 2 daughters. Lenz (1964) observed father and son with a very short spine and deformity of the anterior chest rather like that in Morquio ...
Molecular genetics OMIM To narrow the search for the genes in the 11.1-Mb interval, Rock et al. (2008) searched for genes with higher expression in cartilage and identified TRPV4 (605427) as having about 10-fold higher cartilage selectivity than the average of ...