MCID: SPN362
MIFTS: 31

Spondylometaphyseal Dysplasia, Sedaghatian Type

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

Aliases & Classifications for Spondylometaphyseal Dysplasia, Sedaghatian Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Sedaghatian Type:

Name: Spondylometaphyseal Dysplasia, Sedaghatian Type 57 59 75 37 73
Spondylometaphyseal Dysplasia Sedaghatian Type 53 29 6
Sedaghatian Chondrodysplasia 57 75
Smds 57 75
Metaphyseal Chondrodysplasia, Congenital Lethal 57
Congenital Lethal Metaphyseal Chondrodysplasia 75
Lethal Metaphyseal Dysplasia 53

Characteristics:

Orphanet epidemiological data:

59
spondylometaphyseal dysplasia, sedaghatian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in perinatal period


HPO:

32
spondylometaphyseal dysplasia, sedaghatian type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondylometaphyseal Dysplasia, Sedaghatian Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93317Disease definitionSpondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.EpidemiologyNine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin.Clinical descriptionA lacy appearance of the iliac crests, long fibulae, abnormal tarsal bones, cardiac arrhythmia, and intracranial anomalies have been described. Intrauterine growth is normal. The majority of patients die in the first days of life with symptoms of cardiorespiratory insufficiency. Subacute myocarditis, cortical necrosis of kidneys, adrenal and pulmonary hemorrhage, absence of the corpus callosum and marked frontotemporal pachygyria have been found at autopsy.EtiologyEtiology remains unknown.Genetic counselingAutosomal recessive inheritance has been suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondylometaphyseal Dysplasia, Sedaghatian Type, also known as spondylometaphyseal dysplasia sedaghatian type, is related to spondylometaphyseal dysplasia, kozlowski type and opsismodysplasia. An important gene associated with Spondylometaphyseal Dysplasia, Sedaghatian Type is GPX4 (Glutathione Peroxidase 4). Affiliated tissues include bone, kidney and heart, and related phenotypes are agenesis of corpus callosum and delayed skeletal maturation

OMIM : 57 Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014). (250220)

UniProtKB/Swiss-Prot : 75 Spondylometaphyseal dysplasia, Sedaghatian type: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities.

Related Diseases for Spondylometaphyseal Dysplasia, Sedaghatian Type

Diseases related to Spondylometaphyseal Dysplasia, Sedaghatian Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondylometaphyseal dysplasia, kozlowski type 11.6
2 opsismodysplasia 11.3
3 spondyloepimetaphyseal dysplasia, strudwick type 10.5
4 cardiac arrhythmia 10.2

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Sedaghatian Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Skeletal Spine:
platyspondyly

Skeletal Hands:
brachydactyly
short metacarpals
short phalanges
phalangeal cone-shaped epiphyses
metacarpal cone-shaped epiphyses

Head And Neck Head:
turricephaly
large posterior fontanelle

Skeletal:
spondylometaphyseal dysplasia

Head And Neck Ears:
posteriorly rotated ears

Skeletal Limbs:
delayed epiphyseal ossification
metaphyseal cupping
irregular metaphyses
short long bones (rhizomelic shortening)
disproportionately long fibulae

Growth Height:
short stature, disproportionate

Skeletal Skull:
disproportionately small occipital bone

Head And Neck Nose:
depressed nasal bridge
flat nasal bridge

Cardiovascular Heart:
atrial septal defect
cardiac arrhythmia
subacute myocarditis

Skeletal Feet:
brachydactyly
clubfeet
irregular tarsal bones

Chest Ribs Sternum Clavicles And Scapulae:
cupped ribs
11 pairs of ribs
short ribs
irregular scapulae

Neurologic Central Nervous System:
porencephaly
hypotonia
focal lissencephaly

Skeletal Pelvis:
flared iliac wings
horizontal acetabular roof
small sacrosciatic notches
irregular lacy iliac crest
medial and lateral spur
more
Growth Weight:
normal birth weight

Chest External Features:
small, narrow chest

Skin Nails Hair Skin:
redundant skin folds


Clinical features from OMIM:

250220

Human phenotypes related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

59 32 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
2 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
3 atrioventricular block 59 32 hallmark (90%) Very frequent (99-80%) HP:0001678
4 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
5 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
6 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
7 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
8 cone-shaped epiphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010579
9 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
10 metaphyseal chondrodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005871
11 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
12 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
13 myocarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012819
14 pachygyria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001302
15 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
16 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
17 spondylometaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002657
18 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
19 long fibula 59 32 hallmark (90%) Very frequent (99-80%) HP:0003085
20 abnormality of the scapula 59 32 hallmark (90%) Very frequent (99-80%) HP:0000782
21 cardiorespiratory arrest 59 32 hallmark (90%) Very frequent (99-80%) HP:0006543
22 rhizomelic arm shortening 59 32 hallmark (90%) Very frequent (99-80%) HP:0004991
23 iliac crest serration 59 32 hallmark (90%) Very frequent (99-80%) HP:0008786
24 short neck 32 HP:0000470
25 respiratory insufficiency 59 Frequent (79-30%)
26 depressed nasal bridge 32 HP:0005280
27 short long bone 32 HP:0003026
28 atrial septal defect 32 HP:0001631
29 short toe 32 HP:0001831
30 rhizomelia 32 HP:0008905
31 brachydactyly 32 HP:0001156
32 talipes equinovarus 32 HP:0001762
33 redundant skin 32 HP:0001582
34 flat acetabular roof 32 HP:0003180
35 short finger 32 HP:0009381
36 cupped ribs 32 HP:0000887
37 disproportionate short stature 59 Very frequent (99-80%)
38 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
39 short phalanx of finger 32 HP:0009803
40 posteriorly rotated ears 32 HP:0000358
41 11 pairs of ribs 32 HP:0000878
42 flared iliac wings 32 HP:0002869
43 cone-shaped metacarpal epiphyses 32 HP:0006059
44 short ribs 32 HP:0000773
45 delayed epiphyseal ossification 32 HP:0002663
46 metaphyseal irregularity 32 HP:0003025
47 metaphyseal cupping 32 HP:0003021
48 large posterior fontanelle 32 HP:0004491
49 porencephalic cyst 32 HP:0002132
50 irregular tarsal bones 32 HP:0004688

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Sedaghatian Type

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia, Sedaghatian Type

Genetic Tests for Spondylometaphyseal Dysplasia, Sedaghatian Type

Genetic tests related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

# Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia Sedaghatian Type 29 GPX4

Anatomical Context for Spondylometaphyseal Dysplasia, Sedaghatian Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

41
Bone, Kidney, Heart, Skin

Publications for Spondylometaphyseal Dysplasia, Sedaghatian Type

Articles related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

# Title Authors Year
1
Spondylometaphyseal dysplasia-Sedaghatian type associated with intra-partum cardiac arrhythmia and neonatal death. ( 18097914 )
2007
2
Spondylometaphyseal dysplasia: Sedaghatian type. ( 10678656 )
2000
3
Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. ( 10955475 )
2000
4
Spondylometaphyseal dysplasia-Sedaghatian type. ( 9556300 )
1998
5
Spondylometaphyseal dysplasia, Sedaghatian type. ( 1481828 )
1992

Variations for Spondylometaphyseal Dysplasia, Sedaghatian Type

ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Sedaghatian Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPX4 NM_002085.4(GPX4): c.476+5G> A single nucleotide variant Pathogenic rs775146234 GRCh38 Chromosome 19, 1105814: 1105814
2 GPX4 NM_002085.4(GPX4): c.476+5G> A single nucleotide variant Pathogenic rs775146234 GRCh37 Chromosome 19, 1105813: 1105813
3 GPX4 NM_001039848.2(GPX4): c.588-8_588-4delTTTTC deletion Pathogenic
4 GPX4 NM_002085.4(GPX4): c.270C> A (p.Tyr90Ter) single nucleotide variant Pathogenic rs769967246 GRCh38 Chromosome 19, 1105456: 1105456
5 GPX4 NM_002085.4(GPX4): c.270C> A (p.Tyr90Ter) single nucleotide variant Pathogenic rs769967246 GRCh37 Chromosome 19, 1105455: 1105455

Expression for Spondylometaphyseal Dysplasia, Sedaghatian Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, Sedaghatian Type.

Pathways for Spondylometaphyseal Dysplasia, Sedaghatian Type

GO Terms for Spondylometaphyseal Dysplasia, Sedaghatian Type

Sources for Spondylometaphyseal Dysplasia, Sedaghatian 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
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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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