MCID: SPN350
MIFTS: 13

Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration:

Name: Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 57
Spondyloepimetaphyseal Dysplasia X-Linked with Mental Deterioration 53
Semd, X-Linked, with Mental Deterioration 57
Semd X-Linked with Mental Deterioration 53

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development


HPO:

32
spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300232
MedGen 42 C1846148

Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration, is also known as spondyloepimetaphyseal dysplasia x-linked with mental deterioration. Affiliated tissues include bone, and related phenotypes are malar flattening and hypertelorism

More information from OMIM: 300232

Related Diseases for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration:

32 (show all 41)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 high palate 32 HP:0000218
6 seizures 32 HP:0001250
7 coarse facial features 32 HP:0000280
8 delayed skeletal maturation 32 HP:0002750
9 depressed nasal bridge 32 HP:0005280
10 thick eyebrow 32 HP:0000574
11 short stature 32 HP:0004322
12 flexion contracture 32 HP:0001371
13 broad nasal tip 32 HP:0000455
14 platyspondyly 32 HP:0000926
15 wormian bones 32 HP:0002645
16 intellectual disability, progressive 32 HP:0006887
17 thin ribs 32 HP:0000883
18 metaphyseal cupping of metacarpals 32 HP:0006028
19 brachydactyly 32 HP:0001156
20 flattened epiphysis 32 HP:0003071
21 low anterior hairline 32 HP:0000294
22 midface retrusion 32 HP:0011800
23 thoracic kyphosis 32 HP:0002942
24 optic disc pallor 32 HP:0000543
25 coxa vara 32 HP:0002812
26 short finger 32 HP:0009381
27 hypoplasia of the corpus callosum 32 HP:0002079
28 broad foot 32 HP:0001769
29 broad palm 32 HP:0001169
30 hypoplasia of the odontoid process 32 HP:0003311
31 prominent sternum 32 HP:0000884
32 flared iliac wings 32 HP:0002869
33 small epiphyses 32 HP:0010585
34 anterior rib cupping 32 HP:0000907
35 short femoral neck 32 HP:0100864
36 metaphyseal widening 32 HP:0003016
37 delayed cns myelination 32 HP:0002188
38 widened subarachnoid space 32 HP:0012704
39 spondyloepimetaphyseal dysplasia 32 HP:0002651
40 peg-like central prominence of distal tibial metaphyses 32 HP:0006423
41 cone-shaped capital femoral epiphysis 32 HP:0008789

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
pale optic discs
prominent eyebrows

Head And Neck Neck:
short neck

Head And Neck Nose:
depressed nasal bridge
broad nasal tip

Skeletal Spine:
platyspondyly
odontoid hypoplasia
exaggerated thoracic kyphosis

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
prominent sternum
anterior rib cupping
inferior rib flaring

Skeletal Feet:
brachydactyly
large, broad feet

Skeletal:
spondyloepimetaphyseal dysplasia
delayed bone age
joint contractures

Head And Neck Face:
midface hypoplasia
low frontal hairline
coarse facies

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
seizures
delayed myelination
progressive mental retardation
small corpus callosum
widened subarachnoid spaces

Growth Height:
short stature

Skeletal Skull:
wormian bones

Skeletal Hands:
brachydactyly
large, broad hands
metaphyseal cupping (metacarpals and phalanges)

Skeletal Pelvis:
coxa vara
flared iliac wings
short, hypoplastic femoral necks
cone-shaped capital femoral epiphyses

Skeletal Limbs:
peg-like central prominence of distal tibial metaphyses
widened metaphyses
small flattened epiphyses (distal femora and proximal tibiae)

Skin Nails Hair Hair:
low frontal hairline
prominent eyebrows

Clinical features from OMIM:

300232

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration

Genetic Tests for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration:

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration:

# Title Authors PMID Year
1
Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation. 8
10486082 1999

Variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

Expression for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration.

Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

Sources for Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....