MCID: SPN132
MIFTS: 18

Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Hypotrichosis:

Name: Spondyloepimetaphyseal Dysplasia with Hypotrichosis 57 53 72
Whyte Syndrome 57 53
Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome 59
Whyte Petersen Mcalister Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondyloepimetaphyseal dysplasia with hypotrichosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 183849
MESH via Orphanet 45 C535783
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 73 C1866728
Orphanet 59 ORPHA168443
MedGen 42 C1866728
UMLS 72 C1866728

Summaries for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 168443DefinitionSpondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Hypotrichosis, also known as whyte syndrome, is related to macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance. Affiliated tissues include bone and testes, and related phenotypes are rhizomelia and hypotrichosis

More information from OMIM: 183849

Related Diseases for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Diseases related to Spondyloepimetaphyseal Dysplasia with Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 11.2

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Hypotrichosis:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 rhizomelia 32 HP:0008905
2 hypotrichosis 32 HP:0001006
3 genu varum 32 HP:0002970
4 coxa vara 32 HP:0002812
5 proximal femoral metaphyseal irregularity 32 HP:0003411
6 decreased hip abduction 32 HP:0003184
7 flared iliac wings 32 HP:0002869
8 short femoral neck 32 HP:0100864
9 delayed epiphyseal ossification 32 HP:0002663
10 spondyloepimetaphyseal dysplasia 32 HP:0002651
11 pear-shaped vertebrae 32 HP:0004566
12 flared femoral metaphysis 32 HP:0002834
13 flared humeral metaphysis 32 HP:0003911
14 increased anterior vertebral height 32 HP:0004581
15 proximal humeral metaphyseal irregularity 32 HP:0005043
16 lateral femoral bowing 32 HP:0005090
17 medial widening of clavicles 32 HP:0006599

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Hair:
hypotrichosis

Skeletal Pelvis:
coxa vara
flared iliac wings
short femoral neck
limited hip abduction

Chest Ribs Sternum Clavicles And Scapulae:
medial widening of clavicles

Head And Neck Teeth:
normal teeth

Skeletal Limbs:
genu varum
lateral femoral bowing
rhizomelic (upper extremities greater than lower extremities)
metaphyseal flaring and irregularity (especially proximal femora and proximal humeri)
epiphyseal irregularity
more
Skeletal Spine:
increased anterior vertebral height
pear-shaped vertebral bodies

Skin Nails Hair Nails:
normal nails

Growth Height:
short stature, rhizomelic

Clinical features from OMIM:

183849

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Hypotrichosis:

41
Bone, Testes

Publications for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Articles related to Spondyloepimetaphyseal Dysplasia with Hypotrichosis:

# Title Authors PMID Year
1
An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism. 8
7894736 1994
2
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. 8
2363424 1990

Variations for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Expression for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Hypotrichosis.

Pathways for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

GO Terms for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Sources for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

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
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