MCID: SPN350
MIFTS: 20

Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration

Categories: Rare diseases, Bone diseases, Fetal diseases, Neuronal diseases, Mental 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
Spondyloepimetaphyseal Dysplasia, Bieganski Type 59
Semd, X-Linked, with Mental Deterioration 57
Semd X-Linked with Mental Deterioration 53

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia, bieganski type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

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:



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. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include bone, and related phenotypes are malar flattening and hypertelorism

Description from OMIM: 300232

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

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

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
anterior rib cupping
prominent sternum
inferior rib flaring

Skeletal Feet:
brachydactyly
large, broad feet

Skeletal:
spondyloepimetaphyseal dysplasia
delayed bone age
joint contractures

Skin Nails Hair Hair:
low frontal hairline
prominent eyebrows

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

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

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

Head And Neck Mouth:
high-arched palate


Clinical features from OMIM:

300232

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 platyspondyly 32 HP:0000926
14 wormian bones 32 HP:0002645
15 intellectual disability, progressive 32 HP:0006887
16 thin ribs 32 HP:0000883
17 metaphyseal cupping of metacarpals 32 HP:0006028
18 brachydactyly 32 HP:0001156
19 broad nasal tip 32 HP:0000455
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 coxa vara 32 HP:0002812
25 short finger 32 HP:0009381
26 hypoplasia of the corpus callosum 32 HP:0002079
27 broad foot 32 HP:0001769
28 broad palm 32 HP:0001169
29 hypoplasia of the odontoid process 32 HP:0003311
30 optic disc pallor 32 HP:0000543
31 flared iliac wings 32 HP:0002869
32 small epiphyses 32 HP:0010585
33 anterior rib cupping 32 HP:0000907
34 short femoral neck 32 HP:0100864
35 delayed cns myelination 32 HP:0002188
36 metaphyseal widening 32 HP:0003016
37 widened subarachnoid space 32 HP:0012704
38 spondyloepimetaphyseal dysplasia 32 HP:0002651
39 prominent sternum 32 HP:0000884
40 peg-like central prominence of distal tibial metaphyses 32 HP:0006423
41 cone-shaped capital femoral epiphysis 32 HP:0008789

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...

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...

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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