MCID: ALP091
MIFTS: 23

Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

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

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


External Ids:

OMIM 56 203550
MESH via Orphanet 44 C537051
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0795895
Orphanet 58 ORPHA1005
MedGen 41 C0795895
UMLS 71 C0795895

Summaries for Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

MalaCards based summary : Alopecia-Contractures-Dwarfism Mental Retardation Syndrome, also known as alopecia contractures dwarfism mental retardation, is related to ichthyosis bullosa of siemens and split-hand/foot malformation 1. Affiliated tissues include bone and skin, and related phenotypes are myopia and alopecia

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 ifap syndrome with or without bresheck syndrome 10.4
4 scoliosis 10.4
5 ichthyosis 10.4
6 alopecia 10.4
7 alopecia-contractures-dwarfism-intellectual disability syndrome 10.4
8 dwarfism 10.4
9 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 myopia 58 31 Frequent (79-30%) HP:0000545
2 alopecia 58 31 Very frequent (99-80%) HP:0001596
3 intellectual disability, progressive 58 31 Very frequent (99-80%) HP:0006887
4 hip dislocation 58 31 Occasional (29-5%) HP:0002827
5 turricephaly 58 31 Frequent (79-30%) HP:0000262
6 prominent nose 58 31 Frequent (79-30%) HP:0000448
7 severe short stature 58 31 Very frequent (99-80%) HP:0003510
8 intellectual disability 58 Very frequent (99-80%)
9 hypertelorism 58 Frequent (79-30%)
10 macrotia 58 Frequent (79-30%)
11 scoliosis 58 Occasional (29-5%)
12 kyphosis 58 Very frequent (99-80%)
13 abnormality of the helix 58 Frequent (79-30%)
14 carious teeth 31 HP:0000670
15 joint stiffness 58 Very frequent (99-80%)
16 microcephaly 58 Frequent (79-30%)
17 ichthyosis 58 Occasional (29-5%)
18 flexion contracture 31 HP:0001371
19 intellectual disability, severe 31 HP:0010864
20 hyperkeratosis 58 Frequent (79-30%)
21 biparietal narrowing 58 Frequent (79-30%)
22 hypohidrosis 58 Very frequent (99-80%)
23 intrauterine growth retardation 58 Frequent (79-30%)
24 abnormality of the skeletal system 58 Occasional (29-5%)
25 dolichocephaly 31 HP:0000268
26 upslanted palpebral fissure 58 Frequent (79-30%)
27 brachydactyly 58 Frequent (79-30%)
28 clinodactyly of the 5th finger 58 Frequent (79-30%)
29 low-set, posteriorly rotated ears 58 Frequent (79-30%)
30 abnormality of dental enamel 58 Frequent (79-30%)
31 telecanthus 31 HP:0000506
32 vertebral segmentation defect 58 Frequent (79-30%)
33 finger syndactyly 58 Frequent (79-30%)
34 abnormality of the elbow 58 Frequent (79-30%)
35 synostosis of carpal bones 58 Frequent (79-30%)
36 cutaneous finger syndactyly 31 HP:0010554
37 abnormality of the antihelix 58 Frequent (79-30%)
38 severe postnatal growth retardation 31 HP:0008850
39 sparse hair 58 Very frequent (99-80%)
40 abnormal toenail morphology 58 Frequent (79-30%)
41 short middle phalanx of finger 58 Frequent (79-30%)
42 moderate postnatal growth retardation 58 Frequent (79-30%)
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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