Pili torti

General Information (adopted from Orphanet):

Synonyms, Signs: PILI TORTI, RONCHESE TYPE
twisted hair
Number of Symptoms 22
OrphanetNr: 2889
OMIM Id: 261900
ICD-10: Q84.1
UMLs: C0263491
MeSH:
MedDRA:
Snomed: 17170005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated hair shaft abnormality
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
2
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
3
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
4
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
5
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
6
 (HPO:0003329) Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 2 / 7739
7
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
8
 (HPO:0002299) Brittle hair Frequent [Orphanet] 52 / 7739
9
 (HPO:0003777) Pili torti Very frequent [Orphanet] 24 / 7739
10
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
11
 (HPO:0011359) Dry hair 16 / 7739
12
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
13
 (OMIM) Hair fragility 1 / 7739
14
 (OMIM) Nail dystrophy may occur 1 / 7739
15
 (OMIM) Enamel hypoplasia may occur 1 / 7739
16
 (OMIM) Brittle, dry hair 2 / 7739
17
 (OMIM) Flattened hair 1 / 7739
18
 (OMIM) Hair twists on long axis, 90 to 360 degrees 1 / 7739
19
 (OMIM) Hair appears spangled in reflective light 1 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
 (OMIM) Hyperkeratosis pilaris may occur 1 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pili torti, or twisted hair, is a condition in which the hair shafts are flattened and rotated along their long axis. Hairs are fragile and break at short length. Some patients may have associated dental or nail findings, ...
Clinical Description OMIM Pili torti was first described and named by Ronchese (1932), who observed 2 affected Italian sisters. The proband had dull blonde scalp hair that was 'lank and frizzy, with a wild, bushy appearance.' The hairs were very fragile, ...