Brachyolmia, Maroteaux type

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYOLMIA, MAROTEAUX TYPE
Brachyolmia type 2
Number of Symptoms 14
OrphanetNr: 93302
OMIM Id: 613678
ICD-10: Q76.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
2
(HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
3
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
4
(HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
5
(HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
6
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
7
(HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
8
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
9
(HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
10
(OMIM) Vertebral borders less elongated on lateral view than in Hobaek type (271530) 1 / 7739
11
(OMIM) Falx cerebri, precocious calcification of 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Vertebral borders show less lateral extension on anteroposterior view than in Hobaek type (271530) 1 / 7739
14
(OMIM) Vertebral borders rounded anteriorly and posteriorly 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by generalized platyspondyly without significant long bone abnormalities. The Maroteaux type of brachyolmia is an autosomal recessive form in which ...
Clinical Description OMIM Shohat et al. (1989) reported 4 families with the Maroteaux type of brachyolmia, including 2 brothers whose Israeli parents were first cousins, suggesting autosomal recessive inheritance. Birth length was below normal in 1 patient, and in the other ...