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Hypertrichosis lanuginosa congenita(CHL)

MedGen UID:
66727
Concept ID:
C0235864
Congenital Abnormality
Synonyms: CHL; Congenital hypertrichosis lanuginosa; Hypertrichosis lanuginosa universalis; Hypertrichosis universalis
SNOMED CT: Congenital hypertrichosis lanuginosa (403799003); Hypertrichosis universalis congenita (403799003); Hypertrichosis universalis (201163007)
Modes of inheritance:
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.
 
Monarch Initiative: MONDO:0016381
OMIM®: 145700
Orphanet: ORPHA2222

Definition

Congenital hypertrichosis lanuginosa is a rare disorder characterized by excessive lanugo hair present at birth covering the entire body surface except the mucosae, palms, and soles (summary by De Raeve and Keymolen, 2011). [from OMIM]

Clinical features

From HPO
Double eyebrow
MedGen UID:
488904
Concept ID:
C0431449
Congenital Abnormality
This may present as a partial or complete duplication of the eyebrows.
Congenital, generalized hypertrichosis
MedGen UID:
1807304
Concept ID:
C5574955
Disease or Syndrome
A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypertrichosis lanuginosa congenita
Follow this link to review classifications for Hypertrichosis lanuginosa congenita in Orphanet.

Recent clinical studies

Etiology

Littler CM
Dermatol Surg 1997 Aug;23(8):705-7. doi: 10.1111/j.1524-4725.1997.tb00394.x. PMID: 9256919

Therapy

Salas-Alanis JC, Lopez-Cepeda LD, Elizondo-Rodriguez A, Morales-Barrera ME, Ramos-Garibay AR
Pediatr Dermatol 2014 Jul-Aug;31(4):529-30. Epub 2012 Oct 2 doi: 10.1111/j.1525-1470.2012.01881.x. PMID: 23025656
Littler CM
Dermatol Surg 1997 Aug;23(8):705-7. doi: 10.1111/j.1524-4725.1997.tb00394.x. PMID: 9256919

Prognosis

Littler CM
Dermatol Surg 1997 Aug;23(8):705-7. doi: 10.1111/j.1524-4725.1997.tb00394.x. PMID: 9256919

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