Alopecia-contractures-dwarfism-intellectual disability syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 35

HPO ID Term Frequency
HP:0000966 Hypohidrosis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001596 Alopecia Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0006887 Intellectual disability, progressive Very frequent (99-80%)
HP:0008070 Sparse hair Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000262 Turricephaly Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000682 Abnormality of dental enamel Frequent (79-30%)
HP:0000962 Hyperkeratosis Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0003422 Vertebral segmentation defect Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004422 Biparietal narrowing Frequent (79-30%)
HP:0005048 Synostosis of carpal bones Frequent (79-30%)
HP:0005819 Short middle phalanx of finger Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0008388 Abnormal toenail morphology Frequent (79-30%)
HP:0008855 Moderate postnatal growth retardation Frequent (79-30%)
HP:0009738 Abnormality of the antihelix Frequent (79-30%)
HP:0009811 Abnormality of the elbow Frequent (79-30%)
HP:0011039 Abnormality of the helix Frequent (79-30%)
HP:0000924 Abnormality of the skeletal system Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002827 Hip dislocation Occasional (29-5%)
HP:0008064 Ichthyosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID