MCID: ALP067
MIFTS: 16

Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

MalaCards integrated aliases for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:

Name: Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 52
Alopecia-Contractures-Dwarfism Intellectual Disabilitysyndrome 52
Alopecia Contractures Dwarfism Mental Retardation 71

Classifications:



Summaries for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1005 Definition A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures , scoliosis , multiple contractures , fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability , and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Visit the Orphanet disease page for more resources.

MalaCards based summary : Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome, also known as alopecia-contractures-dwarfism intellectual disabilitysyndrome, is related to alopecia-contractures-dwarfism mental retardation syndrome and ichthyosis bullosa of siemens. Affiliated tissues include bone, and related phenotypes are kyphosis and joint stiffness

Related Diseases for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Diseases related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alopecia-contractures-dwarfism mental retardation syndrome 11.8
2 ichthyosis bullosa of siemens 11.7

Symptoms & Phenotypes for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Human phenotypes related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 kyphosis 31 hallmark (90%) HP:0002808
2 joint stiffness 31 hallmark (90%) HP:0001387
3 hypohidrosis 31 hallmark (90%) HP:0000966
4 alopecia 31 hallmark (90%) HP:0001596
5 intellectual disability, progressive 31 hallmark (90%) HP:0006887
6 sparse hair 31 hallmark (90%) HP:0008070
7 severe short stature 31 hallmark (90%) HP:0003510
8 hypertelorism 31 frequent (33%) HP:0000316
9 macrotia 31 frequent (33%) HP:0000400
10 abnormality of the helix 31 frequent (33%) HP:0011039
11 microcephaly 31 frequent (33%) HP:0000252
12 hyperkeratosis 31 frequent (33%) HP:0000962
13 biparietal narrowing 31 frequent (33%) HP:0004422
14 intrauterine growth retardation 31 frequent (33%) HP:0001511
15 myopia 31 frequent (33%) HP:0000545
16 upslanted palpebral fissure 31 frequent (33%) HP:0000582
17 brachydactyly 31 frequent (33%) HP:0001156
18 clinodactyly of the 5th finger 31 frequent (33%) HP:0004209
19 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
20 abnormality of dental enamel 31 frequent (33%) HP:0000682
21 turricephaly 31 frequent (33%) HP:0000262
22 vertebral segmentation defect 31 frequent (33%) HP:0003422
23 finger syndactyly 31 frequent (33%) HP:0006101
24 abnormality of the elbow 31 frequent (33%) HP:0009811
25 synostosis of carpal bones 31 frequent (33%) HP:0005048
26 abnormality of the antihelix 31 frequent (33%) HP:0009738
27 abnormal toenail morphology 31 frequent (33%) HP:0008388
28 prominent nose 31 frequent (33%) HP:0000448
29 short middle phalanx of finger 31 frequent (33%) HP:0005819
30 moderate postnatal growth retardation 31 frequent (33%) HP:0008855
31 scoliosis 31 occasional (7.5%) HP:0002650
32 ichthyosis 31 occasional (7.5%) HP:0008064
33 hip dislocation 31 occasional (7.5%) HP:0002827

Drugs & Therapeutics for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Genetic Tests for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Anatomical Context for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

MalaCards organs/tissues related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:

40
Bone

Publications for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Articles related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:

# Title Authors PMID Year
1
Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature. 61
18204861 2008

Variations for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Expression for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Search GEO for disease gene expression data for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome.

Pathways for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

GO Terms for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

Sources for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

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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