Thumb deformity-alopecia-pigmentation anomaly syndrome

Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000953 Hyperpigmentation of the skin Very frequent (99-80%)
HP:0001006 Hypotrichosis Very frequent (99-80%)
HP:0001596 Alopecia Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0009778 Short thumb Very frequent (99-80%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0000982 Palmoplantar keratoderma Frequent (79-30%)
HP:0001025 Urticaria Frequent (79-30%)
HP:0001053 Hypopigmented skin patches Frequent (79-30%)
HP:0001199 Triphalangeal thumb Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001328 Specific learning disability Frequent (79-30%)
HP:0002300 Mutism Frequent (79-30%)
HP:0002357 Dysphasia Frequent (79-30%)
HP:0002381 Aphasia Frequent (79-30%)
HP:0006482 Abnormality of dental morphology Frequent (79-30%)
HP:0008402 Ridged fingernail Frequent (79-30%)
HP:0010529 Echolalia Frequent (79-30%)
HP:0040036 Onychogryposis of fingernail Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0100798 Fingernail dysplasia Frequent (79-30%)
HP:0006101 Finger syndactyly 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