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 53
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 53
Alopecia Contractures Dwarfism Mental Retardation 73
Acd Mental Retardation Syndrome 53

Classifications:



Summaries for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome

NIH Rare Diseases : 53 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 hypertelorism and finger syndactyly

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:

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

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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