MCID: KYP002
MIFTS: 26

Kyphomelic Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Kyphomelic Dysplasia

MalaCards integrated aliases for Kyphomelic Dysplasia:

Name: Kyphomelic Dysplasia 56 52 58 29 71
Bowing, Congenital, with Short Bones 56 52
Congenital Bowing with Short Bones 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
kyphomelic dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 211350
MESH via Orphanet 44 C538128
UMLS via Orphanet 72 C0432239
Orphanet 58 ORPHA1801
MedGen 41 C0432239
UMLS 71 C0432239

Summaries for Kyphomelic Dysplasia

NIH Rare Diseases : 52 Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features. Bone changes are said to improve with age. Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longer considered it's own entity and that individual cases should be further evaluated and re-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome .

MalaCards based summary : Kyphomelic Dysplasia, also known as bowing, congenital, with short bones, is related to dwarfism and skeletal dysplasias. Affiliated tissues include bone, t cells and b cells, and related phenotypes are bowing of the long bones and abnormality of the metaphysis

More information from OMIM: 211350

Related Diseases for Kyphomelic Dysplasia

Diseases related to Kyphomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 dwarfism 10.3
2 skeletal dysplasias 10.3
3 immune deficiency disease 10.1
4 kniest-like dysplasia with pursed lips and ectopia lentis 10.1
5 cartilage-hair hypoplasia 10.1
6 schwartz-jampel syndrome, type 1 10.1
7 pierre robin syndrome 10.1
8 brachydactyly 10.1
9 pure red-cell aplasia 10.1
10 severe combined immunodeficiency 10.1
11 combined t cell and b cell immunodeficiency 10.1
12 cleft lip 10.1
13 bowing of long bones congenital 10.1
14 isolated pierre robin sequence 10.1
15 cleft lip/palate 10.1
16 red cell aplasia 10.1

Graphical network of the top 20 diseases related to Kyphomelic Dysplasia:



Diseases related to Kyphomelic Dysplasia

Symptoms & Phenotypes for Kyphomelic Dysplasia

Human phenotypes related to Kyphomelic Dysplasia:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
2 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
3 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
4 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
5 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
6 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
7 disproportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003498
8 anterior rib cupping 58 31 hallmark (90%) Very frequent (99-80%) HP:0000907
9 undulate ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0010561
10 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
11 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
12 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
13 flat acetabular roof 58 31 frequent (33%) Frequent (79-30%) HP:0003180
14 missing ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000921
15 lateral clavicle hook 58 31 frequent (33%) Frequent (79-30%) HP:0000895
16 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
17 large hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0001176
18 limitation of joint mobility 58 31 Frequent (79-30%) HP:0001376
19 low-set ears 31 HP:0000369
20 depressed nasal bridge 31 HP:0005280
21 short metacarpal 31 HP:0010049
22 cleft palate 31 HP:0000175
23 platyspondyly 31 HP:0000926
24 talipes equinovarus 31 HP:0001762
25 high forehead 31 HP:0000348
26 cleft upper lip 31 HP:0000204
27 pterygium 31 HP:0001059
28 thoracic hypoplasia 31 HP:0005257
29 femoral bowing 31 HP:0002980
30 tibial bowing 31 HP:0002982
31 radial bowing 31 HP:0002986
32 ulnar bowing 31 HP:0003031
33 short humerus 31 HP:0005792
34 short femur 31 HP:0003097
35 dumbbell-shaped humerus 31 HP:0005009
36 flared metaphysis 31 HP:0003015
37 bowed humerus 31 HP:0003865

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Feet:
talipes equinovarus

Skeletal Hands:
short metacarpals

Growth Height:
short stature, disproportionate

Chest External Features:
small chest

Skin Nails Hair Skin:
pterygia
dimples (over bowed limbs)

Head And Neck Face:
micrognathia
flat face
high forehead

Skeletal Spine:
platyspondyly

Skeletal Limbs:
metaphyseal flaring
bowed radii
bowed tibia
bowed limbs (lower greater than upper limbs)
severe micromelia
more
Head And Neck Nose:
flat nasal bridge

Skeletal Pelvis:
horizontal acetabular roof
short, wide iliac wings

Chest Ribs Sternum Clavicles And Scapulae:
short, wavy ribs
hooked clavicles
anteriorly cupped ribs

Clinical features from OMIM:

211350

Drugs & Therapeutics for Kyphomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Kyphomelic Dysplasia

Genetic Tests for Kyphomelic Dysplasia

Genetic tests related to Kyphomelic Dysplasia:

# Genetic test Affiliating Genes
1 Kyphomelic Dysplasia 29

Anatomical Context for Kyphomelic Dysplasia

MalaCards organs/tissues related to Kyphomelic Dysplasia:

40
Bone, T Cells, B Cells

Publications for Kyphomelic Dysplasia

Articles related to Kyphomelic Dysplasia:

(show all 30)
# Title Authors PMID Year
1
Re-evaluation of kyphomelic dysplasia. 61 56
12833417 2003
2
Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling. 61 56
12599182 2003
3
Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia. 61 56
11140840 2000
4
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. 61 56
11038441 2000
5
Association of kyphomelic dysplasia with severe combined immunodeficiency. 61 56
7573142 1995
6
Kyphomelic dysplasia. 61 56
8064826 1994
7
Kyphomelic dysplasia: the first 10 cases. 61 56
2109078 1990
8
Kyphomelic dysplasia. 61 56
2746619 1989
9
Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). 61 56
6837632 1983
10
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene. 56
14569125 2003
11
Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings. 56
6472918 1984
12
Familial congenital bowing with short bones. 56
472236 1979
13
Heterogeneity in the campomelic syndromes. Long-and short-bone varieties. 56
948600 1976
14
Kyphomelic dysplasia, Pierre Robin Sequence and pregnant. 61
30879933 2019
15
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. 61
29178448 2018
16
New insights in congenital bowing of the femora. 61
15324311 2004
17
Kyphomelic dysplasia, phenotypic variability and presence of a caudal appendage. 61
12523349 2002
18
Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas. 61
12065952 2002
19
Prenatal diagnosis of kyphomelic dysplasia. 61
11787041 2001
20
[Kyphomelic dysplasia]. 61
11528928 2001
21
Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes. 61
10998449 2000
22
Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature. 61
10478256 1999
23
Variability in kyphomelic dysplasia. 61
10398797 1999
24
Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern. 61
10526661 1999
25
Kyphomelic dysplasia in two sib fetuses. 61
9475099 1998
26
The scapula as a window to the diagnosis of skeletal dysplasias. 61
9133361 1997
27
Lethal kyphomelic dysplasia. 61
9156533 1996
28
Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia. 61
8291526 1993
29
Long-term follow up of a case of kyphomelic dysplasia. 61
8421665 1993
30
Kyphomelic dysplasia versus femoral hypoplasia--unusual facies syndrome. 61
3717215 1986

Variations for Kyphomelic Dysplasia

Expression for Kyphomelic Dysplasia

Search GEO for disease gene expression data for Kyphomelic Dysplasia.

Pathways for Kyphomelic Dysplasia

GO Terms for Kyphomelic Dysplasia

Sources for Kyphomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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