MCID: SPN289
MIFTS: 29

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

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

Aliases & Classifications for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

MalaCards integrated aliases for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

Name: Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 57 13 73
Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 53 75 29 6 40
Smed-Sl 57 53 75
Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome 53 59
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type 53 75
Smed Short Limb-Abnormal Calcification Type 53 75
Smed Short Limb-Hand Type 53 75
Smed-Sl/ac 57 75
Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type 57
Spondyloepimetaphyseal Dysplasia - Short Limb - Abnormal Calcification 53
Spondyloepimetaphyseal Dysplasia Short Limb-Hand Type 75
Smed, Short Limb-Abnormal Calcification Type 57
Smed, Short Limb-Hand Type 57
Smed, Type Ii 57
Smed Type Ii 75
Smed Type 2 53
Semd-Sl 75

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,late childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spondylometaepiphyseal dysplasia, short limb-hand type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

UniProtKB/Swiss-Prot : 75 Spondyloepimetaphyseal dysplasia short limb-hand type: A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping.

MalaCards based summary : Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type, also known as spondylometaepiphyseal dysplasia short limb-hand type, is related to aging and spondyloepimetaphyseal dysplasia, matrilin-3 related. An important gene associated with Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type is DDR2 (Discoidin Domain Receptor Tyrosine Kinase 2). Affiliated tissues include bone, lung and eye, and related phenotypes are malar flattening and hypertelorism

Description from OMIM: 271665

Related Diseases for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Diseases related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aging 10.0
2 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.0

Symptoms & Phenotypes for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
prominent eyes

Head And Neck Face:
frontal bossing
micrognathia
flat midface

Head And Neck Nose:
short nose
flat nasal bridge
broad nares

Skeletal Pelvis:
flared iliac wings
hip subluxation
short sciatic notch
short ischia

Skeletal Skull:
calcification of falx cerebri

Head And Neck Mouth:
high-arched palate

Skeletal Hands:
short fingers
short, wide phalanges
triangular shaped distal phalanges
short, wide metacarpals (wider distally than proximally)
carpal calcifications

Chest External Features:
bell-shaped chest
small chest

Head And Neck Neck:
calcified styloid process
calcified stylomandibular ligaments
calcified thyroid cartilage
calcified cricoid cartilage
calcified body and greater cornua of hyoid

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
short ribs
anterior rib cupping
progressive calcification of costochondral cartilage
posterior rib cupping
more
Skeletal Spine:
scoliosis
platyspondyly
hypoplastic odontoid process
c1-c2 subluxation

Skeletal Limbs:
knee flexion contracture
elbow flexion contracture
short limbs
short, broad tubular bones
disproportionately long fibulae
more
Neurologic Central Nervous System:
syringomyelia
spinal cord compression
developmental delay
hypotonia
atlantoaxial instability

Skeletal:
spondyloepimetaphyseal dysplasia
epiphyseal stippling (hips, distal and proximal humeri, proximal and distal femora, distal fibulae, proximal and distal tibiae, distal radii and ulnae)

Respiratory Lung:
restrictive lung disease
pneumonia, recurrent episodes

Skeletal Feet:
metatarsus varus

Growth Height:
dwarfism, short-limbed

Respiratory Airways:
trachea calcifications
bronchi calcifications


Clinical features from OMIM:

271665

Human phenotypes related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

32 (show all 49)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 pectus excavatum 32 HP:0000767
4 frontal bossing 32 HP:0002007
5 high palate 32 HP:0000218
6 scoliosis 32 HP:0002650
7 global developmental delay 32 HP:0001263
8 depressed nasal bridge 32 HP:0005280
9 short nose 32 HP:0003196
10 micrognathia 32 HP:0000347
11 platyspondyly 32 HP:0000926
12 micromelia 32 HP:0002983
13 short long bone 32 HP:0003026
14 metatarsus adductus 32 HP:0001840
15 epiphyseal stippling 32 HP:0010655
16 recurrent pneumonia 32 HP:0006532
17 abnormality of the neck 32 HP:0000464
18 disproportionate short-limb short stature 32 HP:0008873
19 midface retrusion 32 HP:0011800
20 proptosis 32 HP:0000520
21 short metacarpal 32 HP:0010049
22 thoracic hypoplasia 32 HP:0005257
23 hypoplasia of the odontoid process 32 HP:0003311
24 short phalanx of finger 32 HP:0009803
25 generalized hypotonia 32 HP:0001290
26 restrictive ventilatory defect 32 HP:0002091
27 knee flexion contracture 32 HP:0006380
28 long fibula 32 HP:0003085
29 flared iliac wings 32 HP:0002869
30 bell-shaped thorax 32 HP:0001591
31 bowing of the legs 32 HP:0002979
32 syringomyelia 32 HP:0003396
33 short ribs 32 HP:0000773
34 anterior rib cupping 32 HP:0000907
35 flared metaphysis 32 HP:0003015
36 spinal cord compression 32 HP:0002176
37 elbow flexion contracture 32 HP:0002987
38 calcification of falx cerebri 32 HP:0005462
39 spondyloepimetaphyseal dysplasia 32 HP:0002651
40 abnormal calcification of the carpal bones 32 HP:0009164
41 broad metacarpals 32 HP:0001230
42 hip subluxation 32 HP:0030043
43 c1-c2 subluxation 32 HP:0003320
44 atlantoaxial instability 32 HP:0003467
45 progressive calcification of costochondral cartilage 32 HP:0006600
46 posterior rib cupping 32 HP:0000922
47 broad phalanx 32 HP:0006009
48 tracheal calcification 32 HP:0002787
49 triangular shaped distal phalanges of the hand 32 HP:0009875

Drugs & Therapeutics for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Search Clinical Trials , NIH Clinical Center for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Genetic Tests for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Genetic tests related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

# Genetic test Affiliating Genes
1 Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 29 DDR2

Anatomical Context for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

MalaCards organs/tissues related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

41
Bone, Lung, Eye, Spinal Cord, Thyroid, Trachea

Publications for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Articles related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

# Title Authors Year
1
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. ( 21818555 )
2011

Variations for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

UniProtKB/Swiss-Prot genetic disease variations for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

75
# Symbol AA change Variation ID SNP ID
1 DDR2 p.Thr713Ile VAR_063050 rs121964865
2 DDR2 p.Ile726Arg VAR_063051 rs121964864
3 DDR2 p.Arg752Cys VAR_063052 rs121964863
4 DDR2 p.Glu113Lys VAR_065719 rs397514747
5 DDR2 p.Arg124Trp VAR_075417

ClinVar genetic disease variations for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DDR2 NM_001014796.1(DDR2): c.2254C> T (p.Arg752Cys) single nucleotide variant Pathogenic rs121964863 GRCh37 Chromosome 1, 162746131: 162746131
2 DDR2 NM_001014796.1(DDR2): c.2254C> T (p.Arg752Cys) single nucleotide variant Pathogenic rs121964863 GRCh38 Chromosome 1, 162776341: 162776341
3 DDR2 NM_001014796.2(DDR2): c.2177T> G (p.Ile726Arg) single nucleotide variant Pathogenic rs121964864 GRCh37 Chromosome 1, 162746054: 162746054
4 DDR2 NM_001014796.2(DDR2): c.2177T> G (p.Ile726Arg) single nucleotide variant Pathogenic rs121964864 GRCh38 Chromosome 1, 162776264: 162776264
5 DDR2 NM_001014796.2(DDR2): c.2138C> T (p.Thr713Ile) single nucleotide variant Pathogenic rs121964865 GRCh37 Chromosome 1, 162746015: 162746015
6 DDR2 NM_001014796.2(DDR2): c.2138C> T (p.Thr713Ile) single nucleotide variant Pathogenic rs121964865 GRCh38 Chromosome 1, 162776225: 162776225
7 DDR2 DDR2, IVS17, G-A, +1 single nucleotide variant Pathogenic
8 DDR2 NM_001014796.2(DDR2): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs397514747 GRCh37 Chromosome 1, 162724565: 162724565
9 DDR2 NM_001014796.2(DDR2): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs397514747 GRCh38 Chromosome 1, 162754775: 162754775

Expression for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Search GEO for disease gene expression data for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type.

Pathways for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

GO Terms for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Sources for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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