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Absent facial hair

MedGen UID:
376305
Concept ID:
C1848192
Finding
HPO: HP:0002550

Definition

Absence of facial hair. [from HPO]

Term Hierarchy

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

Conditions with this feature

Androgen resistance syndrome
MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.
Primrose syndrome
MedGen UID:
162911
Concept ID:
C0796121
Disease or Syndrome
Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple Wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.
Ectodermal dysplasia-syndactyly syndrome 1
MedGen UID:
462157
Concept ID:
C3150807
Disease or Syndrome
Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14.

Professional guidelines

PubMed

Lizneva D, Gavrilova-Jordan L, Walker W, Azziz R
Best Pract Res Clin Obstet Gynaecol 2016 Nov;37:98-118. Epub 2016 May 19 doi: 10.1016/j.bpobgyn.2016.05.003. PMID: 27387253
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
Castelo-Branco C, Cancelo MJ
Gynecol Endocrinol 2010 Jul;26(7):484-93. doi: 10.3109/09513591003686353. PMID: 20218823

Recent clinical studies

Etiology

Liu LY, King BA, Ko JM
J Investig Dermatol Symp Proc 2020 Nov;20(1):S37-S40. doi: 10.1016/j.jisp.2020.04.006. PMID: 33099382
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
Castelo-Branco C, Cancelo MJ
Gynecol Endocrinol 2010 Jul;26(7):484-93. doi: 10.3109/09513591003686353. PMID: 20218823
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Elghblawi E
Br J Nurs 2008 Feb 14-27;17(3):192-7. doi: 10.12968/bjon.2008.17.3.28410. PMID: 18414261

Diagnosis

Sathyanarayanan, Ramkumar, Dinesh S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443324
Lizneva D, Gavrilova-Jordan L, Walker W, Azziz R
Best Pract Res Clin Obstet Gynaecol 2016 Nov;37:98-118. Epub 2016 May 19 doi: 10.1016/j.bpobgyn.2016.05.003. PMID: 27387253
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
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Elghblawi E
Br J Nurs 2008 Feb 14-27;17(3):192-7. doi: 10.12968/bjon.2008.17.3.28410. PMID: 18414261

Therapy

Plăcintă IA, De Freitas RA, Rahhal-Ortuño M, Udaondo P
Rom J Ophthalmol 2020 Jan-Mar;64(1):70-74. PMID: 32292862Free PMC Article
Lizneva D, Gavrilova-Jordan L, Walker W, Azziz R
Best Pract Res Clin Obstet Gynaecol 2016 Nov;37:98-118. Epub 2016 May 19 doi: 10.1016/j.bpobgyn.2016.05.003. PMID: 27387253
Castelo-Branco C, Cancelo MJ
Gynecol Endocrinol 2010 Jul;26(7):484-93. doi: 10.3109/09513591003686353. PMID: 20218823
Elghblawi E
Br J Nurs 2008 Feb 14-27;17(3):192-7. doi: 10.12968/bjon.2008.17.3.28410. PMID: 18414261
Imperato-McGinley J, Zhu YS
Mol Cell Endocrinol 2002 Dec 30;198(1-2):51-9. doi: 10.1016/s0303-7207(02)00368-4. PMID: 12573814

Prognosis

Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X
Orphanet J Rare Dis 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. PMID: 37697378Free PMC Article
Cheng AY, Lan J, Lee CH
J Dermatol 2022 Jun;49(6):600-606. Epub 2022 Mar 22 doi: 10.1111/1346-8138.16351. PMID: 35318716
Yu R, Liu L, Li YL, Fan LL
Biomed Res Int 2021;2021:4381272. Epub 2021 Jan 11 doi: 10.1155/2021/4381272. PMID: 33506017Free PMC Article
Tirado M, Ständer S, Metze D
Am J Dermatopathol 2014 Nov;36(11):892-8. doi: 10.1097/DAD.0000000000000081. PMID: 24698937
McCarthy GT, West CM
Dev Med Child Neurol 1977 Oct;19(5):659-63. doi: 10.1111/j.1469-8749.1977.tb07999.x. PMID: 913905

Clinical prediction guides

Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X
Orphanet J Rare Dis 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. PMID: 37697378Free PMC Article
Sathyanarayanan, Ramkumar, Dinesh S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443324
Lizneva D, Gavrilova-Jordan L, Walker W, Azziz R
Best Pract Res Clin Obstet Gynaecol 2016 Nov;37:98-118. Epub 2016 May 19 doi: 10.1016/j.bpobgyn.2016.05.003. PMID: 27387253
Thibaut S, De Becker E, Caisey L, Baras D, Karatas S, Jammayrac O, Pisella PJ, Bernard BA
Br J Dermatol 2010 Feb 1;162(2):304-10. Epub 2009 Sep 1 doi: 10.1111/j.1365-2133.2009.09487.x. PMID: 19804590
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679

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