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MCID: PLT010
MIFTS: 15
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Pili Torti Onychodysplasia
Categories:
Eye diseases, Fetal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Pili Torti Onychodysplasia:
Name: Pili Torti Onychodysplasia
19
71
Characteristics:Inheritance:
Pili Torti-Onychodysplasia Syndrome:
Autosomal recessive 58
Prevelance:
Pili Torti-Onychodysplasia Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Pili Torti-Onychodysplasia Syndrome:
Infancy,Neonatal 58
Classifications:
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis |
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GARD: 19 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. MalaCards based summary: Pili Torti Onychodysplasia, is also known as pili torti-onychodysplasia syndrome. Affiliated tissues include skin, and related phenotypes are ectodermal dysplasia and palmoplantar keratoderma Orphanet: 58 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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Human phenotypes related to Pili Torti Onychodysplasia:58 30 (show all 21)
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Organs/tissues related to Pili Torti Onychodysplasia:
MalaCards :
Skin
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Search
GEO
for disease gene expression data for Pili Torti Onychodysplasia.
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