Metaphyseal chondrodysplasia, Schmid type

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
MCDS
Number of Symptoms 41
OrphanetNr: 174
OMIM Id: 156500
ICD-10: Q78.5
UMLs: C0265289
MeSH: C537352
MedDRA:
Snomed: 29248006

Prevalence, inheritance and age of onset:

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

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:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
2
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
3
(HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
4
(HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
5
(HPO:0002515) Waddling gait 56 / 7739
6
(HPO:0002980) Femoral bowing 36 / 7739
7
(HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
8
(HPO:0006414) Distal tibial bowing 1 / 7739
9
(HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
10
(HPO:0002970) Genu varum Very frequent [Orphanet] 60 / 7739
11
(HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 41 / 7739
12
(HPO:0003301) Irregular vertebral endplates 25 / 7739
13
(HPO:0005819) Short middle phalanx of finger 28 / 7739
14
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
15
(HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
16
(HPO:0003371) Enlargement of the proximal femoral epiphysis 2 / 7739
17
(HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
18
(HPO:0000926) Platyspondyly 150 / 7739
19
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
20
(HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
21
(HPO:0011849) Abnormal bone ossification Frequent [Orphanet] 35 / 7739
22
(HPO:0002812) Coxa vara 58 / 7739
23
(HPO:0005871) Metaphyseal chondrodysplasia 10 / 7739
24
(HPO:0006431) Proximal femoral metaphyseal abnormality 1 / 7739
25
(HPO:0006208) Metaphyseal cupping of proximal phalanges 2 / 7739
26
(HPO:0008833) Irregular acetabular roof 3 / 7739
27
(HPO:0009882) Short distal phalanx of finger 125 / 7739
28
(HPO:0009844) Broad middle phalanx of finger 2 / 7739
29
(HPO:0006028) Metaphyseal cupping of metacarpals 4 / 7739
30
(HPO:0003502) Mild short stature 19 / 7739
31
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
(HPO:0003072) Hypercalcemia Frequent [Orphanet] 36 / 7739
33
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
(OMIM) Adult height 130-160cm 1 / 7739
35
(OMIM) Metaphyseal abnormalities of distal radius and ulna 1 / 7739
36
(OMIM) Metaphyseal abnormalities of proximal tibiae and fibulae 1 / 7739
37
(OMIM) Mild to moderate short stature 7 / 7739
38
(OMIM) Mild platyspondyly 14 / 7739
39
(OMIM) Tibial bowing, especially at ankle 1 / 7739
40
(OMIM) No osteoarthritic symptoms 1 / 7739
41
(OMIM) Short/broad middle phalanges 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In Schmid-type metaphyseal chondrodysplasia, irregularities of the metaphyseal ends of bones of the extremities are demonstrated radiologically. Bowlegs and coxa vara result.

Stephens (1943) reported on a Morman kindred in which over 40 members of 4 ...

Molecular genetics OMIM In the Mormon kindred reported by Stephens (1943) and studied by Caffey and Christensen (1963), Warman et al. (1993) identified a 13-bp deletion in heterozygous state in COL10A1 gene (120110.0001). The mutation produced a frameshift that altered the ...