Kyphomelic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: BOWING, CONGENITAL, WITH SHORT BONES
Number of Symptoms 51
OrphanetNr: 1801
OMIM Id: 211350
ICD-10:
UMLs: C0432239
MeSH: C538128
MedDRA:
Snomed: 254096001

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: Bent bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0005280) Depressed nasal bridge 381 / 7739
2
(HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
3
(HPO:0000204) Cleft upper lip 193 / 7739
4
(HPO:0000348) High forehead 157 / 7739
5
(HPO:0000175) Cleft palate 349 / 7739
6
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
7
(HPO:0000347) Micrognathia 426 / 7739
8
(HPO:0000369) Low-set ears 372 / 7739
9
(HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
10
(HPO:0005009) Dumbbell-shaped humerus 1 / 7739
11
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
12
(HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
13
(HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
14
(HPO:0002980) Femoral bowing 36 / 7739
15
(HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
16
(HPO:0000895) Lateral clavicle hook 11 / 7739
17
(HPO:0001059) Pterygium 16 / 7739
18
(HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
19
(HPO:0010049) Short metacarpal 99 / 7739
20
(HPO:0003031) Ulnar bowing 11140840 IBIS 16 / 7739
21
(HPO:0010561) Undulate ribs 2 / 7739
22
(HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
23
(HPO:0000926) Platyspondyly 150 / 7739
24
(HPO:0001176) Large hands Occasional [Orphanet] 43 / 7739
25
(HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
26
(HPO:0003865) Bowed humerus 5 / 7739
27
(HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
28
(HPO:0002986) Radial bowing 27 / 7739
29
(HPO:0003180) Flat acetabular roof 25 / 7739
30
(HPO:0003015) Flared metaphysis 44 / 7739
31
(HPO:0005792) Short humerus 34 / 7739
32
(HPO:0003097) Short femur 13 / 7739
33
(HPO:0001376) Limitation of joint mobility 27 / 7739
34
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
35
(HPO:0002983) Micromelia 130 / 7739
36
(HPO:0001762) Talipes equinovarus 309 / 7739
37
(HPO:0002982) Tibial bowing 36 / 7739
38
(HPO:0000907) Anterior rib cupping 12 / 7739
39
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
40
(HPO:0003498) Disproportionate short stature 28 / 7739
41
(HPO:0200040) Epidermoid cyst Frequent [Orphanet] 35 / 7739
42
(HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
43
(OMIM) Short, dumbbell-shaped humeri 1 / 7739
44
(OMIM) Short, wavy ribs 2 / 7739
45
(OMIM) Dimples (chin, buttocks) 4 / 7739
46
(OMIM) Short, wide iliac wings 1 / 7739
47
(OMIM) Anteriorly cupped ribs 1 / 7739
48
(OMIM) Bowed limbs (lower greater than upper limbs) 1 / 7739
49
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
50
(OMIM) Severe micromelia 5 / 7739
51
(OMIM) Short, curved femora 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM Prasad et al. (2000) stated that about 15 cases of kyphomelic dysplasia had been reported. They presented the clinical, radiologic, and pathologic findings of an antenatally detected female fetus with this disorder. X-rays showed curved humeri, radii, ulnae, ...
Clinical Description OMIM Hall and Spranger (1979) described 2 brothers with congenital bowing and short broad bones. The proximal part of the limbs were most severely affected, particularly the femurs. In early infancy the metaphyses were moderately flared and irregular, but ...