Pili torti-onychodysplasia syndrome

A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.



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

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000968 Ectodermal dysplasia Obligate (100%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000377 Abnormality of the pinna Frequent (79-30%)
HP:0000561 Absent eyelashes Frequent (79-30%)
HP:0000958 Dry skin Frequent (79-30%)
HP:0000964 Eczema Frequent (79-30%)
HP:0000982 Palmoplantar keratoderma Frequent (79-30%)
HP:0001596 Alopecia Frequent (79-30%)
HP:0002223 Absent eyebrow Frequent (79-30%)
HP:0002289 Alopecia universalis Frequent (79-30%)
HP:0002299 Brittle hair Frequent (79-30%)
HP:0002552 Trichodysplasia Frequent (79-30%)
HP:0007439 Generalized keratosis follicularis Frequent (79-30%)
HP:0008394 Congenital onychodystrophy Frequent (79-30%)
HP:0008404 Nail dystrophy Frequent (79-30%)
HP:0010562 Keloids Frequent (79-30%)
HP:0012725 Cutaneous syndactyly Frequent (79-30%)
HP:0030953 Conjunctival hyperemia Frequent (79-30%)
HP:0410030 Cleft lip Frequent (79-30%)
HP:0002231 Sparse body hair 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