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Lumbosacral hirsutism

MedGen UID:
Concept ID:
HPO: HP:0009747


Abnormally increased hair growth in the lumbosacral region. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLumbosacral hirsutism

Conditions with this feature

Coffin-Siris syndrome 1
MedGen UID:
Concept ID:
Disease or Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.

Recent clinical studies


Gonzalez Garcia A, Malone J, Li H
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005322. PMID: 32532882Free PMC Article

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