MCID: ALP091
MIFTS: 25

Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

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

Aliases & Classifications for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

MalaCards integrated aliases for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome:

Name: Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 56 52
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 52 58
Alopecia Contractures Dwarfism Mental Retardation 74 71
Acd Mental Retardation Syndrome 56 52
Acd-Intellectual Disability Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
alopecia-contractures-dwarfism-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
alopecia-contractures-dwarfism mental retardation syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Alopecia-Contractures-Dwarfism Mental Retardation 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 Mental Retardation Syndrome, also known as alopecia-contractures-dwarfism-intellectual disability syndrome, is related to ichthyosis bullosa of siemens and split-hand/foot malformation 1. Affiliated tissues include bone and skin, and related phenotypes are kyphosis and joint stiffness

Wikipedia : 74 Alopecia contractures dwarfism mental retardation syndrome or (ACD mental retardation syndrome) is a... more...

More information from OMIM: 203550

Related Diseases for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

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

# Related Disease Score Top Affiliating Genes
1 ichthyosis bullosa of siemens 11.7
2 split-hand/foot malformation 1 10.4
3 scoliosis 10.4
4 ichthyosis 10.4
5 alopecia 10.4
6 dwarfism 10.4
7 ichthyosis follicularis atrichia photophobia syndrome 10.4
8 isolated split hand-split foot malformation 10.4

Graphical network of the top 20 diseases related to Alopecia-Contractures-Dwarfism Mental Retardation Syndrome:



Diseases related to Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Symptoms & Phenotypes for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Human phenotypes related to Alopecia-Contractures-Dwarfism Mental Retardation Syndrome:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
4 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
5 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
6 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
7 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
10 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
11 abnormality of the helix 58 31 frequent (33%) Frequent (79-30%) HP:0011039
12 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
13 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
14 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
15 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
16 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
17 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
18 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
19 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
20 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
21 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
22 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
23 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
24 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%) HP:0003422
25 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
26 synostosis of carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0005048
27 abnormal toenail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008388
28 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
29 short middle phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0005819
30 moderate postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008855
31 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
32 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
33 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
34 intellectual disability 58 Very frequent (99-80%)
35 carious teeth 31 HP:0000670
36 flexion contracture 31 HP:0001371
37 intellectual disability, severe 31 HP:0010864
38 dolichocephaly 31 HP:0000268
39 abnormality of the skeletal system 58 Occasional (29-5%)
40 telecanthus 31 HP:0000506
41 cutaneous finger syndactyly 31 HP:0010554
42 severe postnatal growth retardation 31 HP:0008850
43 short middle phalanx of the 5th finger 31 HP:0004220
44 thoracic kyphoscoliosis 31 HP:0005659
45 large fleshy ears 31 HP:0002265
46 generalized hypoplasia of dental enamel 31 HP:0006282

Symptoms via clinical synopsis from OMIM:

56
Hair:
alopecia

Nose:
prominent nose

Growth:
severe growth retardation

Ears:
large soft ears

Teeth:
severe enamel dysplasia
severe caries

Eyes:
telecanthus
marked myopia

Skeletal:
thoracic kyphoscoliosis
bilateral dislocated hips
joint contractures (elbows, fingers, knees)
fifth digits short, esp. second phalanges
slight cutaneous syndactyly, all digits

Skull:
turridolichocephaly

Neuro:
severe mental retardation (iq 40)

Clinical features from OMIM:

203550

Drugs & Therapeutics for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Genetic Tests for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Anatomical Context for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

MalaCards organs/tissues related to Alopecia-Contractures-Dwarfism Mental Retardation Syndrome:

40
Bone, Skin

Publications for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Articles related to Alopecia-Contractures-Dwarfism Mental Retardation Syndrome:

# Title Authors PMID Year
1
Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies. 56
10861681 2000
2
Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency. 56
7158638 1982
3
A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation. 56
6250998 1980
4
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 Mental Retardation Syndrome

Expression for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Search GEO for disease gene expression data for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome.

Pathways for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

GO Terms for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Sources for Alopecia-Contractures-Dwarfism Mental Retardation 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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