MCID: SPN248
MIFTS: 31

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Categories: Rare diseases, Bone diseases, Fetal diseases, Smell/Taste diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

Name: Spondyloepimetaphyseal Dysplasia, Sponastrime Type 57 12 59 15 73
Sponastrime Dysplasia 57 12 53 59
Spondylar and Nasal Alterations with Striated Metaphyses 57 53
Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation 57
Short Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation 53
Spondylar and Nasal Changes with Striations of the Metaphyses Dysplasia 59
Spondylar and Nasal Alterations-Striated Metaphyses Syndrome 12
Spondyloepimetaphyseal Dysplasia Sponastrime Type 53

Characteristics:

Orphanet epidemiological data:

59
sponastrime dysplasia
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)
a subgroup of patients with sponastrime dysplasia have severe mental retardation


HPO:

32
spondyloepimetaphyseal dysplasia, sponastrime type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

OMIM : 57 Sponastrime dysplasia is a rare autosomal recessive bone disorder. Radiographic findings include abnormal vertebral bodies with age-dependent changes, and striations of the metaphyses, scoliosis, and retarded ossification of the carpal bones. Physical features include severe short stature, lumbar lordosis, midface hypoplasia, frontal bossing, and a depressed nasal root (summary by Cooper et al., 2000). (271510)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Sponastrime Type, also known as sponastrime dysplasia, is related to chiari malformation type ii and pyle disease. An important gene associated with Spondyloepimetaphyseal Dysplasia, Sponastrime Type is SEMA3A (Semaphorin 3A). Affiliated tissues include bone, and related phenotypes are malar flattening and anteverted nares

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has material basis in autosomal recessive inheritance.

Related Diseases for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

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

# Related Disease Score Top Affiliating Genes
1 chiari malformation type ii 10.3
2 pyle disease 10.3
3 chiari malformation 10.3
4 cataract 9.9
5 dwarfism 9.9

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:



Diseases related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
bilateral posterior subcapsular cataracts

Skeletal:
osteopenia
delayed bone age

Growth Height:
short stature
short-limb dwarfism

Skeletal Pelvis:
coxa vara
flattened capital femoral epiphyses

Respiratory Larynx:
subglottic stenosis
laryngotracheomalacia

Immunology:
hypogammaglobulinemia

Skeletal Hands:
delayed carpal bone ossification

Head And Neck Face:
frontal bossing
midface hypoplasia

Head And Neck Nose:
depressed nasal bridge
short, upturned nose

Skeletal Spine:
thoracic kyphosis
kyphoscoliosis
lumbar lordosis, increased
platyspondyly (early childhood)
relative increase in anterior vertebral body height
more
Skeletal Limbs:
limited elbow extension
metaphyseal striations
irregular metaphyses
mild mesomelia
hypoplastic epiphyses

Head And Neck Head:
macrocephaly, relative

Head And Neck Teeth:
short dental roots

Neurologic Central Nervous System:
mental retardation, in subgroup of patients


Clinical features from OMIM:

271510

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
3 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
5 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
6 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
7 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
8 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
9 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
10 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
11 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
12 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
13 spondyloepimetaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002651
14 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
15 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
16 lumbar hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002938
17 mesomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003027
18 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
19 decreased antibody level in blood 59 32 occasional (7.5%) Occasional (29-5%) HP:0004313
20 craniofacial hyperostosis 59 32 frequent (33%) Frequent (79-30%) HP:0004493
21 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
22 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
23 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
24 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
25 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
26 short stature 59 Very frequent (99-80%)
27 abnormality of the dentition 32 HP:0000164
28 hypertelorism 32 HP:0000316
29 osteopenia 32 HP:0000938
30 delayed ossification of carpal bones 32 HP:0001216
31 intellectual disability 32 occasional (7.5%) HP:0001249
32 limited elbow extension 32 HP:0001377
33 subglottic stenosis 32 HP:0001607
34 kyphoscoliosis 32 HP:0002751
35 coxa vara 32 HP:0002812
36 thoracic kyphosis 32 HP:0002942
37 metaphyseal irregularity 32 HP:0003025
38 flat capital femoral epiphysis 32 HP:0003370
39 igg deficiency 32 HP:0004315
40 relative macrocephaly 32 HP:0004482
41 biconcave vertebral bodies 32 HP:0004586
42 short dental roots 32 HP:0006336
43 intellectual disability, progressive 32 HP:0006887
44 posterior subcapsular cataract 32 HP:0007787
45 lumbar interpedicular narrowing 32 HP:0008486
46 laryngotracheomalacia 32 HP:0008755
47 disproportionate short-limb short stature 32 HP:0008873
48 midface retrusion 32 HP:0011800

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 SAMHD1 SEMA3A

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Articles related to Spondyloepimetaphyseal Dysplasia, Sponastrime Type:

(show all 13)
# Title Authors Year
1
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts. ( 18203204 )
2008
2
Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness. ( 11822706 )
2002
3
Sponastrime dysplasia: presentation in infancy. ( 11768397 )
2001
4
SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature. ( 10797420 )
2000
5
Another observation of Langer-type sponastrime dysplasia variant. ( 9843056 )
1998
6
Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases. ( 9133352 )
1997
7
SPONASTRIME dysplasia: report on a female patient with severe skeletal changes. ( 8989461 )
1996
8
Sponastrime dysplasia: five new cases and review of nine previously published cases. ( 8723082 )
1996
9
Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation. ( 7551156 )
1995
10
Sponastrime dysplasia: report on a male patient. ( 7824362 )
1994
11
Sponastrime dysplasia: report on two siblings with metal retardation. ( 8152878 )
1993
12
Sponastrime dysplasia. A radiologic-pathologic correlation. ( 2771481 )
1989
13
The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings. ( 6618893 )
1983

Variations for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Expression for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Sponastrime Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sources for Spondyloepimetaphyseal Dysplasia, Sponastrime Type

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
46 MGI
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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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