Spondyloepimetaphyseal dysplasia congenita, Strudwick type

General Information (adopted from Orphanet):

Synonyms, Signs: SMED, TYPE I
DAPPLED METAPHYSIS SYNDROME
SPONDYLOMETAPHYSEAL DYSPLASIA
SEMDSTWK
SMED, STRUDWICK TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE
SEMD, STRUDWICK TYPE
STRUDWICK SYNDROME
SEMDC
SMD
Number of Symptoms 49
OrphanetNr: 93346
OMIM Id: 184250
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

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:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
3
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
6
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
7
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
8
 (HPO:0008788) Delayed pubic bone ossification 5 / 7739
9
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
10
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
11
 (HPO:0000907) Anterior rib cupping 12 / 7739
12
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
13
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
14
 (HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
15
 (HPO:0001763) Pes planus 176 / 7739
16
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
17
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
18
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
19
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
20
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
21
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
22
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
23
 (HPO:0003311) Hypoplasia of the odontoid process Occasional [Orphanet] 34 / 7739
24
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
25
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
26
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
27
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
28
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
29
 (HPO:0011860) Metaphyseal dappling 1 / 7739
30
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
31
 (HPO:0003320) C1-C2 subluxation 5 / 7739
32
 (HPO:0003173) Hypoplastic pubic bone 8 / 7739
33
 (HPO:0000768) Pectus carinatum 136 / 7739
34
 (HPO:0002812) Coxa vara 58 / 7739
35
 (HPO:0006406) Club-shaped proximal femur 2 / 7739
36
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
37
 (HPO:0000023) Inguinal hernia 181 / 7739
38
 (HPO:0001538) Protuberant abdomen 36 / 7739
39
 (HPO:0003510) Severe short stature 90 / 7739
40
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
41
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
42
 (OMIM) Dappling greater in ulna than radius and fibula greater than tibia 1 / 7739
43
 (OMIM) Normal intelligence 81 / 7739
44
 (OMIM) Dappled metaphyses (proximal femora, proximal humeri, distal radii, distal ulnae, and proximal and distal tibiae and fibulae) 1 / 7739
45
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
46
 (OMIM) Dwarfism, short-trunk, short-limbed 1 / 7739
47
 (OMIM) Metaphyseal irregularity and sclerosis (childhood) 1 / 7739
48
 (OMIM) Generalized epiphyseal delay (infancy) 1 / 7739
49
 (MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995).
Clinical Description OMIM The features of the Strudwick type of SEMD include severe dwarfism, superficially resembling the Morquio syndrome, and pectus carinatum and scoliosis which are usually marked. Cleft palate and retinal detachment are frequently associated, as in spondyloepiphyseal dysplasia congenita ...
Molecular genetics OMIM In 3 patients with SEMD Strudwick type, Tiller et al. (1993, 1995) found that cartilage contained both normal alpha-1(II) collagen chains and chains that were posttranslationally overmodified. By sequence analysis, they demonstrated heterozygosity for 3 different mutations in ...