Metachondromatosis

General Information (adopted from Orphanet):

Synonyms, Signs: METCDS
Number of Symptoms 15
OrphanetNr: 2499
OMIM Id: 156250
ICD-10: Q78.4
UMLs: C0410530
MeSH:
MedDRA:
Snomed: 205481009

Prevalence, inheritance and age of onset:

Prevalence: 25 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0006824) Cranial nerve paralysis Very frequent [Orphanet] 81 / 7739
2
(HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
3
(HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
4
(HPO:0010885) Aseptic necrosis Very frequent [Orphanet] 24 / 7739
5
(HPO:0005655) Multiple digital exostoses 1 / 7739
6
(HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
7
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
8
(HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
9
(HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
10
(HPO:0006487) Bowing of the long bones 95 / 7739
11
(HPO:0001367) Abnormal joint morphology 53 / 7739
12
(OMIM) No joint deformity, or subluxation 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Striations in metaphyses of long bones and iliac crests 1 / 7739
15
(OMIM) Multiple exostoses, esp. digits 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Maroteaux (1971) described 2 families with skeletal radiologic features of both multiple exostoses (133700) and Ollier disease (166000). He called the disorder metachondromatosis and suggested autosomal dominant inheritance on the basis of 1 family with 5 affected persons. ...
Molecular genetics OMIM Sobreira et al. (2010) performed whole-genome sequencing in 1 affected individual from a 5-generation family with metachondromatosis and identified a heterozygous 11-bp deletion in the PTPN11 gene (176876.0025); analysis of family members confirmed that the deletion segregated with ...