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Sparse facial hair

MedGen UID:
Concept ID:
HPO: HP:0007464


Reduced number or density of facial hair. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSparse facial hair

Conditions with this feature

Metaphyseal chondrodysplasia, McKusick type
MedGen UID:
Concept ID:
Congenital Abnormality
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Lipodystrophy-intellectual disability-deafness syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.

Professional guidelines


Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
Vergano SS, Deardorff MA
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):252-6. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31411. PMID: 25169447
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):302-14. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31409. PMID: 25169058

Recent clinical studies


Koçyiğit C, Sarıtaş S, Çatlı G, Onay H, Dündar BN
J Clin Res Pediatr Endocrinol 2016 Jun 5;8(2):232-5. Epub 2016 Apr 18 doi: 10.4274/jcrpe.2637. PMID: 27087292Free PMC Article
Ahmad A, Siddiqui MA, Goyal A, Wangnoo SK
BMJ Case Rep 2012 Jul 18;2012 doi: 10.1136/bcr-2012-006223. PMID: 22814614Free PMC Article

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