MCID: SPN263
MIFTS: 28

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 57 13
Semdjl2 57 59 75
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type 57 59
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations, Hall Type 57 59
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 59 73
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Hall Type 75
Spondyloepimetaphyseal Dysplasia with Joint Laxity Leptodactylic Type 75
Spondyloepimetaphyseal Dysplasia with Joint Laxicity, Hall Type 59
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Hall Type 57
Spondyloepimetaphyseal Dysplasia with Joint Laxity Hall Type 75
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 59
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 2 75
Lepto-Semdjl 75
Semd-Md 59

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia with multiple dislocations
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondyloepimetaphyseal dysplasia with joint laxity, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 603546
Orphanet 59 ORPHA93360
MESH via Orphanet 45 C535784
UMLS via Orphanet 74 C1863732
ICD10 via Orphanet 34 Q77.7
MedGen 42 C1863732
MeSH 44 D010009
UMLS 73 C1863732

Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

OMIM : 57 Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood (summary by Boyden et al., 2011). (603546)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2, also known as semdjl2, is related to spondyloepimetaphyseal dysplasia with multiple dislocations and spondyloepimetaphyseal dysplasia, matrilin-3 related. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 is KIF22 (Kinesin Family Member 22). Affiliated tissues include bone and skin, and related phenotypes are malar flattening and genu valgum

UniProtKB/Swiss-Prot : 75 Spondyloepimetaphyseal dysplasia with joint laxity, 2: A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood.

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Diseases in the Spondyloepimetaphyseal Dysplasia Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia with multiple dislocations 11.7
2 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.6
3 spondyloepimetaphyseal dysplasia joint laxity 10.6

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
radial head dislocation
large joint dislocations (especially knees)
small, flattened irregular epiphyses
irregular, flared metaphyses with streaky sclerosis
more
Growth Height:
short stature

Skeletal Pelvis:
congenital hip dislocation
small flattened capital femoral epiphyses
narrow femoral necks
tapered ischia

Head And Neck Face:
midface hypoplasia

Skeletal Hands:
gracile metacarpals
long, slender middle and proximal phalanges
broad, square ends of distal phalanges
prominent distal phalangeal tufts
small carpal bones
more
Skeletal Spine:
scoliosis
caudal narrowing of interpedicular distances
vertebral endplate irregularity
posterior vertebral body scalloping
sacral spinal dysraphism

Skeletal:
joint laxity
spondyloepimetaphyseal dysplasia

Neurologic Central Nervous System:
hypotonia

Skin Nails Hair Skin:
normal wound healing
velvety skin


Clinical features from OMIM:

603546

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 Very frequent (99-80%) HP:0000272
2 genu valgum 59 32 Frequent (79-30%) HP:0002857
3 muscular hypotonia 59 32 Occasional (29-5%) HP:0001252
4 scoliosis 59 32 Very frequent (99-80%) HP:0002650
5 short stature 59 32 Very frequent (99-80%) HP:0004322
6 flat capital femoral epiphysis 59 32 Very frequent (99-80%) HP:0003370
7 metaphyseal irregularity 59 32 Very frequent (99-80%) HP:0003025
8 macrocephaly 59 Frequent (79-30%)
9 low-set ears 59 Occasional (29-5%)
10 short neck 59 Occasional (29-5%)
11 joint dislocation 59 Very frequent (99-80%)
12 frontal bossing 59 Frequent (79-30%)
13 osteoarthritis 59 Frequent (79-30%)
14 abnormality of epiphysis morphology 59 Very frequent (99-80%)
15 kyphosis 59 Very frequent (99-80%)
16 global developmental delay 59 Frequent (79-30%)
17 skeletal dysplasia 59 Very frequent (99-80%)
18 depressed nasal bridge 59 Very frequent (99-80%)
19 pes planus 59 Occasional (29-5%)
20 short nose 59 Frequent (79-30%)
21 anteverted nares 59 Frequent (79-30%)
22 platyspondyly 59 Very frequent (99-80%)
23 micromelia 59 Very frequent (99-80%)
24 joint hyperflexibility 59 Very frequent (99-80%)
25 carpal bone hypoplasia 32 HP:0001498
26 enlarged thorax 59 Frequent (79-30%)
27 hip dislocation 59 Very frequent (99-80%)
28 joint laxity 32 HP:0001388
29 abnormal bone ossification 59 Very frequent (99-80%)
30 genu varum 59 Occasional (29-5%)
31 midface retrusion 32 HP:0011800
32 delayed patellar ossification 32 HP:0006454
33 nail dysplasia 59 Frequent (79-30%)
34 abnormality of the sacrum 59 Frequent (79-30%)
35 wide nose 59 Frequent (79-30%)
36 spinal dysraphism 32 HP:0010301
37 broad distal phalanx of finger 32 HP:0009836
38 congenital hip dislocation 32 HP:0001374
39 generalized hypotonia 32 HP:0001290
40 laryngeal stenosis 59 Frequent (79-30%)
41 dislocated radial head 32 HP:0003083
42 irregular vertebral endplates 32 HP:0003301
43 small epiphyses 32 HP:0010585
44 irregular epiphyses 32 HP:0010582
45 flared metaphysis 32 HP:0003015
46 posterior scalloping of vertebral bodies 32 HP:0005121
47 large joint dislocations 32 HP:0005008
48 laryngotracheomalacia 59 Frequent (79-30%)
49 soft skin 32 HP:0000977
50 abnormality of the patella 59 Frequent (79-30%)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

41
Bone, Skin

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

# Title Authors Year
1
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. ( 25256152 )
2014
2
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. ( 23665482 )
2013
3
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. ( 22152677 )
2011

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

75
# Symbol AA change Variation ID SNP ID
1 KIF22 p.Pro148Leu VAR_067345 rs193922921
2 KIF22 p.Pro148Ser VAR_067346 rs193922920
3 KIF22 p.Arg149Leu VAR_067347 rs193922922
4 KIF22 p.Arg149Gln VAR_067348 rs193922922

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF22 NM_007317.2(KIF22): c.442C> T (p.Pro148Ser) single nucleotide variant Pathogenic rs193922920 GRCh37 Chromosome 16, 29809961: 29809961
2 KIF22 NM_007317.2(KIF22): c.442C> T (p.Pro148Ser) single nucleotide variant Pathogenic rs193922920 GRCh38 Chromosome 16, 29798640: 29798640
3 KIF22 NM_007317.2(KIF22): c.443C> T (p.Pro148Leu) single nucleotide variant Pathogenic rs193922921 GRCh37 Chromosome 16, 29809962: 29809962
4 KIF22 NM_007317.2(KIF22): c.443C> T (p.Pro148Leu) single nucleotide variant Pathogenic rs193922921 GRCh38 Chromosome 16, 29798641: 29798641
5 KIF22 NM_007317.2(KIF22): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs193922922 GRCh37 Chromosome 16, 29809965: 29809965
6 KIF22 NM_007317.2(KIF22): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs193922922 GRCh38 Chromosome 16, 29798644: 29798644
7 KIF22 NM_007317.2(KIF22): c.446G> T (p.Arg149Leu) single nucleotide variant Pathogenic rs193922922 GRCh37 Chromosome 16, 29809965: 29809965
8 KIF22 NM_007317.2(KIF22): c.446G> T (p.Arg149Leu) single nucleotide variant Pathogenic rs193922922 GRCh38 Chromosome 16, 29798644: 29798644

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2.

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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