Isolated anterior cervical hypertrichosis

MedGen UID:: 325346
•Concept ID:: C1838123
•: Disease or Syndrome

Synonyms:	Anterior cervical hypertrichosis; Hairy throat; Hairy throat syndrome
SNOMED CT:	Isolated anterior cervical hypertrichosis (717963001); Hairy throat syndrome (717963001); Tsukahara Kajii syndrome (717963001)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

HPO:	HP:0004535
Monarch Initiative:	MONDO:0010887
OMIM®:	600457
Orphanet:	ORPHA3387

Definition

Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. [from HPO]

Clinical features

From HPO

Isolated anterior cervical hypertrichosis

MedGen UID:: 325346
•Concept ID:: C1838123
•: Disease or Syndrome

Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.

See: Feature record | Search on this feature

Abnormality of the integument
- Isolated anterior cervical hypertrichosis

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIsolated anterior cervical hypertrichosis

Phenotypic abnormality
- Abnormality of the integument
  - Abnormal skin adnexa morphology
    - Abnormal hair morphology
      - Abnormal hair quantity
        Hypertrichosis
        Isolated anterior cervical hypertrichosis

Follow this link to review classifications for Isolated anterior cervical hypertrichosis in Orphanet.

Conditions with this feature

Isolated anterior cervical hypertrichosis

MedGen UID:: 325346
•Concept ID:: C1838123
•: Disease or Syndrome

Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.

See: Condition Record

Cervical hypertrichosis-peripheral neuropathy syndrome

MedGen UID:: 341004
•Concept ID:: C1855902
•: Disease or Syndrome

A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.

See: Condition Record

Cervical hypertrichosis with underlying kyphoscoliosis