MCID: ALP067
MIFTS: 16
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Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Categories:
Mental diseases, Neuronal diseases, Rare diseases
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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
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Classifications: |
NIH Rare Diseases :
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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 |
Diseases related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:31 (show all 33)
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MalaCards organs/tissues related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:40
Bone
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Articles related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:
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Search
GEO
for disease gene expression data for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome.
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