Metaphyseal chondrodysplasia, Spahr type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr: 2501
OMIM Id: 250400
ICD-10: Q78.5
UMLs: C0432225
MeSH: C537353
MedDRA:
Snomed: 254084008

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
2
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
3
(HPO:0000234) Abnormality of the head 4 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
6
(HPO:0002515) Waddling gait 56 / 7739
7
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
8
(HPO:0004979) Metaphyseal sclerosis 5 / 7739
9
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
10
(HPO:0003016) Metaphyseal widening 41 / 7739
11
(HPO:0006409) Progressive leg bowing 1 / 7739
12
(HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
13
(HPO:0006385) Short lower limbs 8 / 7739
14
(HPO:0002970) Genu varum Very frequent [Orphanet] 60 / 7739
15
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
16
(HPO:0005871) Metaphyseal chondrodysplasia 10 / 7739
17
(HPO:0100255) Metaphyseal dysplasia 26 / 7739
18
(HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
19
(HPO:0002857) Genu valgum 144 / 7739
20
(HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
21
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
22
(HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
23
(HPO:0003498) Disproportionate short stature 28 / 7739
24
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
25
(OMIM) Sclerotic, widened metaphyses 1 / 7739
26
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
(OMIM) Normal skull 1 / 7739
28
(OMIM) Widened epiphyses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Spahr and Spahr-Hartmann (1961) described 4 sibs, of normal but consanguineous parents, in whom bowing of the legs was striking; at least 1 sib required bilateral osteotomy. Farag and Teebi (1990) described a second family with this type ...
Molecular genetics OMIM - Exclusion Studies

Megarbane et al. (2008) performed direct sequencing of the transcribed region and approximately 500 bp promoter region of the RMRP gene in a consanguineous Lebanese family in which 6 individuals had features of ...