DESBUQUOIS DYSPLASIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: DESBUQUOIS SYNDROME
MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION DESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED
DBQD
Number of Symptoms 72
OrphanetNr:
OMIM Id: 251450
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000160) Narrow mouth 188 / 7739
2
(HPO:0011800) Midface retrusion 221 / 7739
3
(HPO:0000308) Microretrognathia 78 / 7739
4
(HPO:0005280) Depressed nasal bridge 381 / 7739
5
(HPO:0000470) Short neck 345 / 7739
6
(HPO:0000520) Proptosis 192 / 7739
7
(HPO:0000311) Round face 104 / 7739
8
(HPO:0003196) Short nose 264 / 7739
9
(HPO:0001087) Congenital glaucoma 12 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0001270) Motor delay 322 / 7739
12
(HPO:0003179) Protrusio acetabuli 37 / 7739
13
(HPO:0003071) Flattened epiphysis 14 / 7739
14
(HPO:0003417) Coronal cleft vertebrae 14 / 7739
15
(HPO:0002970) Genu varum 60 / 7739
16
(HPO:0001852) Sandal gap 63 / 7739
17
(HPO:0010034) Short 1st metacarpal 19 / 7739
18
(HPO:0008108) Advanced tarsal ossification 4 / 7739
19
(HPO:0002650) Scoliosis 705 / 7739
20
(HPO:0009774) Triangular shaped phalanges of the hand 1 / 7739
21
(HPO:0003016) Metaphyseal widening 41 / 7739
22
(HPO:0003180) Flat acetabular roof 25 / 7739
23
(HPO:0006439) Radioulnar dislocation 3 / 7739
24
(HPO:0000926) Platyspondyly 150 / 7739
25
(HPO:0008082) Medial deviation of the foot 2 / 7739
26
(HPO:0001763) Pes planus 176 / 7739
27
(HPO:0003834) Shoulder dislocation 28 / 7739
28
(HPO:0004233) Advanced ossification of carpal bones 14 / 7739
29
(HPO:0002827) Hip dislocation 94 / 7739
30
(HPO:0002999) Patellar dislocation 46 / 7739
31
(HPO:0002673) Coxa valga 57 / 7739
32
(HPO:0010068) Broad first metatarsal 3 / 7739
33
(HPO:0003042) Elbow dislocation 89 / 7739
34
(HPO:0002808) Kyphosis 289 / 7739
35
(HPO:0000939) Osteoporosis 129 / 7739
36
(HPO:0001388) Joint laxity 117 / 7739
37
(HPO:0012095) Multiple joint dislocation 24 / 7739
38
(HPO:0010743) Short metatarsal 56 / 7739
39
(HPO:0006243) Phalangeal dislocation 3 / 7739
40
(HPO:0001373) Joint dislocation 59 / 7739
41
(HPO:0001762) Talipes equinovarus 309 / 7739
42
(HPO:0010049) Short metacarpal 99 / 7739
43
(HPO:0000774) Narrow chest 167 / 7739
44
(HPO:0005021) Bilateral elbow dislocations 24 / 7739
45
(HPO:0003994) Dislocated wrist 24 / 7739
46
(HPO:0005067) Proximal fibular overgrowth 3 / 7739
47
(HPO:0009611) Bifid distal phalanx of the thumb 15 / 7739
48
(HPO:0002812) Coxa vara 58 / 7739
49
(HPO:0001513) Obesity 172 / 7739
50
(HPO:0003498) Disproportionate short stature 28 / 7739
51
(HPO:0001324) Muscle weakness 859 / 7739
52
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
53
(HPO:0010547) Muscle flaccidity 466 / 7739
54
(HPO:0001252) Muscular hypotonia 990 / 7739
55
(OMIM) Sagittal cleft 3 / 7739
56
(OMIM) Bifid distal phalanx of great toe 1 / 7739
57
(OMIM) Osteoarthritis, progressive 1 / 7739
58
(OMIM) Marked lordosis 1 / 7739
59
(OMIM) Short wide femoral neck 3 / 7739
60
(OMIM) Shortened distal phalanges 1 / 7739
61
(OMIM) Radial deviation of the fingers 1 / 7739
62
(OMIM) 'Swedish key' proximal femur (flat proximal femoral metaphysis with medial spike and exaggerated lesser tuberosity) 1 / 7739
63
(OMIM) Average adult height 114 cm 1 / 7739
64
(OMIM) Accessory ossification proximal phalanx, 2nd digit 1 / 7739
65
(OMIM) Elongated second and third toes 1 / 7739
66
(MedDRA:10072883) Brachydactyly 153 / 7739
67
(OMIM) Elevated greater trochanter 1 / 7739
68
(OMIM) 'Monkey wrench' appearance of the femoral heads 1 / 7739
69
(OMIM) Narrowness of intervertebral disc space 1 / 7739
70
(OMIM) Widened anterior ribs 2 / 7739
71
(OMIM) Myopia, apparent with age 1 / 7739
72
(OMIM) Dwarfism, short-limb, prenatal onset 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic ...
Clinical Description OMIM Beemer et al. (1985) and Meinecke et al. (1989) described an apparently distinct skeletal dysplasia manifested by micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. They considered the disorder described by Desbuquois et al. ...
Molecular genetics OMIM In 10 affected children from 9 families with Desbuquois dysplasia, Huber et al. (2009) identified 7 distinct mutations, including 3 missense and 4 truncating mutations, in the CANT1 gene (613165.0001-613165.0007) in homozygous or compound heterozygous state. Eight of ...
Population genetics OMIM By haplotype analysis of 5 families of Japanese and Korean origin with the Kim variant and the CANT1 V226M mutation (613165.0013) reported by Furuichi et al. (2011), Dai et al. (2011) demonstrated a founder effect. The age of ...