Isolated anterior cervical hypertrichosis

General Information (adopted from Orphanet):

Synonyms, Signs: Tsukahara-Kajii syndrome
Hairy throat syndrome
Number of Symptoms 8
OrphanetNr: 3387
OMIM Id: 600457
ICD-10: L68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypertrichosis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000464) Abnormality of the neck Very frequent [Orphanet] 31 / 7739
2
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
3
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
4
 (HPO:0002967) Cubitus valgus Occasional [Orphanet] 49 / 7739
5
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
6
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
7
 (HPO:0004535) Anterior cervical hypertrichosis 3 / 7739
8
 (HPO:0010720) Abnormal hair pattern Very frequent [Orphanet] 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: