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 56 52 71
Whyte Syndrome 56 52
Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome 58
Whyte Petersen Mcalister Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
spondyloepimetaphyseal dysplasia with hypotrichosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 183849
MESH via Orphanet 44 C535783
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C1866728
Orphanet 58 ORPHA168443
MedGen 41 C1866728
UMLS 71 C1866728

Summaries for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168443 Definition Spondyloepimetaphyseal 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 genu varum and coxa vara

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:

(showing 1, show less)
# 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:

31 (showing 17, show less)
# Description HPO Frequency HPO Source Accession
1 genu varum 31 HP:0002970
2 coxa vara 31 HP:0002812
3 sparse hair 31 HP:0008070
4 rhizomelia 31 HP:0008905
5 flared iliac wings 31 HP:0002869
6 short femoral neck 31 HP:0100864
7 decreased hip abduction 31 HP:0003184
8 spondyloepimetaphyseal dysplasia 31 HP:0002651
9 pear-shaped vertebrae 31 HP:0004566
10 proximal femoral metaphyseal irregularity 31 HP:0003411
11 delayed epiphyseal ossification 31 HP:0002663
12 flared femoral metaphysis 31 HP:0002834
13 flared humeral metaphysis 31 HP:0003911
14 increased anterior vertebral height 31 HP:0004581
15 proximal humeral metaphyseal irregularity 31 HP:0005043
16 lateral femoral bowing 31 HP:0005090
17 medial widening of clavicles 31 HP:0006599

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone, Testes

Publications for Spondyloepimetaphyseal Dysplasia with Hypotrichosis

Articles related to Spondyloepimetaphyseal Dysplasia with Hypotrichosis:

(showing 2, show less)
# Title Authors PMID Year
1
An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism. 56
7894736 1994
2
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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