MCID: HRS040
MIFTS: 18

Hirsutism, Skeletal Dysplasia, and Mental Retardation

Categories: Bone diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hirsutism, Skeletal Dysplasia, and Mental Retardation

MalaCards integrated aliases for Hirsutism, Skeletal Dysplasia, and Mental Retardation:

Name: Hirsutism, Skeletal Dysplasia, and Mental Retardation 56
Obsolete: Hirsutism-Skeletal Dysplasia-Intellectual Disability Syndrome 52 58
Wiedemann-Oldigs-Oppermann Syndrome 52 58
Hirsutism-Skeletal Dysplasia-Intellectual Disability Syndrome 52
Hirsutism Skeletal Dysplasia Mental Retardation Syndrome 52
Wiedemann Oldigs Oppermann Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
obsolete: hirsutism-skeletal dysplasia-intellectual disability syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hirsutism, skeletal dysplasia, and mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hirsutism, Skeletal Dysplasia, and Mental Retardation

MalaCards based summary : Hirsutism, Skeletal Dysplasia, and Mental Retardation, is also known as obsolete: hirsutism-skeletal dysplasia-intellectual disability syndrome. Affiliated tissues include eye and bone, and related phenotypes are hypertelorism and intellectual disability

More information from OMIM: 142625

Related Diseases for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Symptoms & Phenotypes for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Human phenotypes related to Hirsutism, Skeletal Dysplasia, and Mental Retardation:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 intellectual disability 31 HP:0001249
3 skeletal dysplasia 31 HP:0002652
4 wide nasal bridge 31 HP:0000431
5 downslanted palpebral fissures 31 HP:0000494
6 brachycephaly 31 HP:0000248
7 hyperuricemia 31 HP:0002149
8 coxa valga 31 HP:0002673
9 epicanthus 31 HP:0000286
10 everted lower lip vermilion 31 HP:0000232
11 pes cavus 31 HP:0001761
12 down-sloping shoulders 31 HP:0200021
13 hirsutism 31 HP:0001007
14 long neck 31 HP:0000472
15 joint subluxation 31 HP:0032153

Symptoms via clinical synopsis from OMIM:

56
Cranium:
brachycephaly

Limbs:
pes cavus
abnormal thumb position
claw-toes

Neuro:
mental retardation

Joints:
pain, swelling, and redness of finger joints
prominent elbow joints
hip joint subluxation
hallux subluxation

Lab:
elevated serum uric acid
reduced renal excrion of uric acid

Skel:
coxa valga
down-sloping shoulders
long neck

Hair:
hirsutism

Facies:
epicanthic folds
antimongoloid eye slant
broad nasal root
mild hypertelorism
everted prominent lower lip

Thorax:
growth long and narrow
prominent manubrium

Clinical features from OMIM:

142625

Drugs & Therapeutics for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Genetic Tests for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Anatomical Context for Hirsutism, Skeletal Dysplasia, and Mental Retardation

MalaCards organs/tissues related to Hirsutism, Skeletal Dysplasia, and Mental Retardation:

40
Eye, Bone

Publications for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Articles related to Hirsutism, Skeletal Dysplasia, and Mental Retardation:

# Title Authors PMID Year
1
Reduced renal excretion of uric acid in the hirsutism-skeletal dysplasia--mental retardation syndrome. 61 56
8092196 1994
2
Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and a uric acid metabolism disorder. 61 56
8357012 1993

Variations for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Expression for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Search GEO for disease gene expression data for Hirsutism, Skeletal Dysplasia, and Mental Retardation.

Pathways for Hirsutism, Skeletal Dysplasia, and Mental Retardation

GO Terms for Hirsutism, Skeletal Dysplasia, and Mental Retardation

Sources for Hirsutism, Skeletal Dysplasia, and Mental Retardation

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
Content
Loading form....