pili torti-onychodysplasia syndrome
MeSH: C537399ORPHA: 2890
Overview
Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with pili torti-onychodysplasia syndrome, sourced from HPO and Orphanet clinical annotations.
Ectodermal dysplasiaCleft palateAbnormal pinna morphologyAbsent eyelashesDry skinEczematoid dermatitisPalmoplantar keratodermaAlopeciaAbsent eyebrowAlopecia universalisBrittle hairTrichodysplasiaGeneralized keratosis follicularisCongenital onychodystrophyNail dystrophyKeloidsCutaneous syndactylyConjunctival hyperemiaCleft lipSparse body hair
Classification & Codes
MeSH Code
C537399Orphanet Code
ORPHA:2890pili torti-onychodysplasia syndrome
| MeSH | C537399 |
| Orphanet | ORPHA:2890 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO