Uncombable hair syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: pili trianguli et canaliculi
Number of Symptoms 13
OrphanetNr: 1410
OMIM Id: 191480
ICD-10: Q84.1
UMLs: C0432347
MeSH: C536939
MedDRA:
Snomed: 254230001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[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:0001022) Albinism Very frequent [Orphanet] 43 / 7739
2
(HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
3
(HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
4
(HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
5
(HPO:0002235) Pili canaliculi 4 / 7739
6
(HPO:0002224) Woolly hair Very frequent [Orphanet] 26 / 7739
7
(HPO:0010719) Abnormality of hair texture Very frequent [Orphanet] 24 / 7739
8
(HPO:0030056) Uncombable hair 3 / 7739
9
(OMIM) Hair shaft by scanning electron microscopy shows triangular/ellipsoidal cross-section (pili trianguli) and canal-like grooves (pili canaliculi) 1 / 7739
10
(OMIM) Spun-glass hair 1 / 7739
11
(OMIM) Normal neonatal hair 1 / 7739
12
(OMIM) Blond-silver hair color 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Uncombable hair syndrome is a relatively rare anomaly of the hair shaft that results in a disorganized, unruly hair pattern that is impossible to comb flat. The characteristic longitudinal grooves along the hair shaft, along with the triangular ...
Clinical Description OMIM This condition was described by French workers (Dupre et al., 1978) as 'le syndrome des cheveux incoiffables.' Scanning electron microscopy showed 2 specific alterations of the hair: a triangular cross-section and a longitudinal groove. Dupre et al. (1978) ...