Dyssegmental dysplasia, Silverman-Handmaker type

General Information (adopted from Orphanet):

Synonyms, Signs: DYSSEGMENTAL DWARFISM, SILVERMAN-HANDMAKER TYPE
ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE
DDSH
Number of Symptoms 40
OrphanetNr: 1865
OMIM Id: 224410
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000272) Malar flattening 277 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
5
 (HPO:0001362) Calvarial skull defect 22 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
8
 (HPO:0012368) Flat face 106 / 7739
9
 (HPO:0000431) Wide nasal bridge 290 / 7739
10
 (HPO:0000160) Narrow mouth 188 / 7739
11
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
12
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
13
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
14
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
15
 (HPO:0002879) Anisospondyly 2 / 7739
16
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
17
 (HPO:0001762) Talipes equinovarus 309 / 7739
18
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
19
 (HPO:0003026) Short long bone 51 / 7739
20
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
21
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
22
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
23
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
24
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
25
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
26
 (HPO:0004298) Abnormality of the abdominal wall 20 / 7739
27
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
29
 (HPO:0001548) Overgrowth 27 / 7739
30
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
31
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
32
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (OMIM) Dyssegmental dysplasia 1 / 7739
35
 (HPO:0003811) Neonatal death 44 / 7739
36
 (OMIM) Chondroosseous morphology notable for short, irregular chondrocyte columns, large, unfused calcospherites, perichondral bone overgrowth and patchy, mucoid degeneration of resting cartilage 1 / 7739
37
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
38
 (OMIM) Short, bent long bones 1 / 7739
39
 (OMIM) Occipital skull defect 1 / 7739
40
 (OMIM) Two vessel cord 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. Handmaker et al. (1977) coined the term 'dyssegmental dysplasia' because of the marked differences in size and shape of the vertebral bodies (anisospondyly), which he attributed to errors ...
Molecular genetics OMIM In a pair of sibs with DDSH born to consanguineous parents, Arikawa-Hirasawa et al. (2001) identified a homozygous 89-bp duplication in exon 34 of the HSPG2 gene (142461.0003). A third unrelated patient was compound heterozygous for 2 truncating ...