Dyssegmental dysplasia, Rolland-Desbuquois type

General Information (adopted from Orphanet):

Synonyms, Signs: DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE
ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE
DDRD
Number of Symptoms 40
OrphanetNr: 156731
OMIM Id: 224400
ICD-10: Q77.7
UMLs: C0432209
MeSH: C537999
MedDRA:
Snomed: 95243004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
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

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck 345 / 7739
2
 (HPO:0011815) Cephalocele 5 / 7739
3
 (HPO:0000586) Shallow orbits 23 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0002084) Encephalocele 70 / 7739
6
 (HPO:0000311) Round face 104 / 7739
7
 (HPO:0011800) Midface retrusion 221 / 7739
8
 (HPO:0012368) Flat face 106 / 7739
9
 (HPO:0000175) Cleft palate 349 / 7739
10
 (HPO:0000272) Malar flattening 277 / 7739
11
 (HPO:0001083) Ectopia lentis 45 / 7739
12
 (HPO:0000501) Glaucoma 180 / 7739
13
 (HPO:0009473) Joint contracture of the hand 84 / 7739
14
 (HPO:0001376) Limitation of joint mobility 27 / 7739
15
 (HPO:0006487) Bowing of the long bones 95 / 7739
16
 (HPO:0002983) Micromelia 130 / 7739
17
 (HPO:0004233) Advanced ossification of carpal bones 14 / 7739
18
 (HPO:0003026) Short long bone 51 / 7739
19
 (HPO:0005622) Broad long bones 8 / 7739
20
 (HPO:0012385) Camptodactyly 113 / 7739
21
 (HPO:0008110) Equinovarus deformity 1 / 7739
22
 (HPO:0000773) Short ribs 70 / 7739
23
 (HPO:0000774) Narrow chest 167 / 7739
24
 (HPO:0003016) Metaphyseal widening 41 / 7739
25
 (HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
26
 (HPO:0001181) Adducted thumb 31 / 7739
27
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
28
 (HPO:0003510) Severe short stature 90 / 7739
29
 (HPO:0001007) Hirsutism 91 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0000238) Hydrocephalus 278 / 7739
32
 (OMIM) Short, broad tubular bones 2 / 7739
33
 (OMIM) Prominent coronal clefting 1 / 7739
34
 (OMIM) Variable vertebral body size 1 / 7739
35
 (OMIM) Microcamptomelia (camptomicromelia) 1 / 7739
36
 (OMIM) Wide flared ilia 1 / 7739
37
 (OMIM) Short, flared ribs 1 / 7739
38
 (OMIM) Sagittal clefting 1 / 7739
39
 (OMIM) Dumbbell femurs 1 / 7739
40
 (OMIM) Short, broad, bowed long bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: