MCID: ALP067
MIFTS: 20

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 54
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 54
Alopecia Contractures Dwarfism Mental Retardation 74
Acd Mental Retardation Syndrome 54

Classifications:



Summaries for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1005Disease definitionAlopecia-contractures-dwarfism-intellectual disabilitysyndrome (ACD syndrome) is 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 mental retardation syndrome, 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 11.6
2 ichthyosis bullosa of siemens 11.5
3 alopecia 10.4
4 dwarfism 10.4

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

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

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

42
Bone

Publications for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

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

# Title Authors Year
1
Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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