Czech dysplasia, metatarsal type

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES
SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
CZECH DYSPLASIA, METATARSAL TYPE
Number of Symptoms 28
OrphanetNr: 137678
OMIM Id: 609162
ICD-10: Q77.7
UMLs: C1836683
MeSH: C535766
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002515) Waddling gait 56 / 7739
2
 (HPO:0002829) Arthralgia 79 / 7739
3
 (HPO:0010049) Short metacarpal 99 / 7739
4
 (HPO:0000926) Platyspondyly 150 / 7739
5
 (HPO:0001831) Short toe 52 / 7739
6
 (HPO:0001371) Flexion contracture 220 / 7739
7
 (HPO:0008819) Narrow femoral neck 2 / 7739
8
 (HPO:0002945) Intervertebral space narrowing 7 / 7739
9
 (HPO:0005720) Shortening of all metacarpals 12 / 7739
10
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
11
 (HPO:0010743) Short metatarsal 56 / 7739
12
 (HPO:0002650) Scoliosis 705 / 7739
13
 (HPO:0002812) Coxa vara 58 / 7739
14
 (HPO:0002942) Thoracic kyphosis 14 / 7739
15
 (HPO:0100864) Short femoral neck 36 / 7739
16
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
17
 (HPO:0002868) Narrow iliac wings 15 / 7739
18
 (HPO:0001507) Growth abnormality 36 / 7739
19
 (OMIM) Mild platyspondyly 14 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
 (OMIM) Flattened capital femoral epiphyses 5 / 7739
22
 (OMIM) Narrow, short femoral neck 1 / 7739
23
 (OMIM) Irregular, sclerotic acetabulae 1 / 7739
24
 (OMIM) Osteochondromatosis 2 / 7739
25
 (OMIM) Elongated vertebrae 1 / 7739
26
 (OMIM) Rectangular lumbar spinal canal 1 / 7739
27
 (OMIM) Prominent trochanter 1 / 7739
28
 (OMIM) Normal stature 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004).
Clinical Description OMIM Williams et al. (1993) described a family living in the Chiloe Islands, Chile, in which 7 members in 3 generations had spondyloepiphyseal dysplasia with shortened metacarpals and metatarsals, precocious osteoarthritis, and periarticular apatite-like calcific deposits. The proband was ...
Molecular genetics OMIM In affected members of a Chilean family with spondyloepiphyseal dysplasia with shortened metacarpals and metatarsals, precocious osteoarthritis, and periarticular apatite-like calcific deposits, Williams et al. (1993) identified heterozygosity for an arg75-to-cys (R75C) mutation in the COL2A1 gene (120140.0018). ...