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Generalized hirsutism

MedGen UID:
Concept ID:
Synonym: Hirsutism, generalized
HPO: HP:0002230


Abnormally increased hair growth over much of the entire body. [from HPO]

Term Hierarchy

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

Conditions with this feature

MedGen UID:
Concept ID:
Disease or Syndrome
Sialuria is a rare inborn error of metabolism in which excessive free sialic acid is synthesized. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay (summary by Enns et al., 2001).
Wiedemann-Steiner syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spaced eyes, long eyelashes, wide nasal bridge, broad nasal tip, thin vermilion of the upper lip, and thick scalp hair. About 60% of affected individuals have hypertrichosis cubiti ("hairy elbows"), which was once thought to be pathognomic for the syndrome, with a majority having hypertrichosis of other body parts. Other clinical features include feeding difficulties, prenatal and postnatal growth restriction, epilepsy, ophthalmologic anomalies, congenital heart defects, hand anomalies (such as brachydactyly and clinodactyly), hypotonia, vertebral anomalies (especially fusion anomalies of the cervical spine), renal and uterine anomalies, immune dysfunction, brain malformations, and dental anomalies.
Developmental and epileptic encephalopathy, 39
MedGen UID:
Concept ID:
Disease or Syndrome
Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Osteogenesis imperfecta type 13
MedGen UID:
Concept ID:
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.
Sweeney-Cox syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).
Schwartz-Jampel syndrome type 1
MedGen UID:
Concept ID:
Disease or Syndrome
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).
Noonan syndrome 13
MedGen UID:
Concept ID:
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Acromesomelic dysplasia 4
MedGen UID:
Concept ID:
Disease or Syndrome
Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).

Professional guidelines


Spritzer PM, Barone CR, Oliveira FB
Curr Pharm Des 2016;22(36):5603-5613. doi: 10.2174/1381612822666160720151243. PMID: 27510481
Ceccato F, Boscaro M
High Blood Press Cardiovasc Prev 2016 Sep;23(3):209-15. Epub 2016 May 9 doi: 10.1007/s40292-016-0153-4. PMID: 27160717
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855

Recent clinical studies


Olioso G, Passarini A, Atzeri F, Milani D, Cereda A, Cerutti M, Maitz S, Menni F, Selicorni A
Am J Med Genet A 2009 Nov;149A(11):2532-7. doi: 10.1002/ajmg.a.33075. PMID: 19876900


Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE
Clin Dysmorphol 2019 Jan;28(1):1-6. doi: 10.1097/MCD.0000000000000242. PMID: 30179896Free PMC Article
Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P
Cold Spring Harb Mol Case Stud 2018 Jun;4(3) Epub 2018 Jun 1 doi: 10.1101/mcs.a002410. PMID: 29305346Free PMC Article
Capo-Chichi JM, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan FF, Michaud JL, Kibar Z, Mégarbané A
Eur J Med Genet 2015 Dec;58(12):637-41. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.005. PMID: 26578240
Mégarbané A, Gosset P, Souraty N, Lapierre JM, Turleau C, Vekemans M, Loiselet J, Prieur M
Am J Med Genet 2000 Nov 13;95(2):164-8. PMID: 11078569
Piazza MJ, Teixeira AC, Amaral MF, Netto AS, Marçallo FA
Obstet Gynecol 1977 Jul;50(1 Suppl):35s-38s. PMID: 876538


Ounap K, Ilus T, Bartsch O
Am J Med Genet A 2005 May 1;134(4):434-8. doi: 10.1002/ajmg.a.30134. PMID: 15793836

Clinical prediction guides

Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P
Cold Spring Harb Mol Case Stud 2018 Jun;4(3) Epub 2018 Jun 1 doi: 10.1101/mcs.a002410. PMID: 29305346Free PMC Article
Olioso G, Passarini A, Atzeri F, Milani D, Cereda A, Cerutti M, Maitz S, Menni F, Selicorni A
Am J Med Genet A 2009 Nov;149A(11):2532-7. doi: 10.1002/ajmg.a.33075. PMID: 19876900
Chudley AE, Tackels DC, Lubs HA, Arena JF, Stoeber WP, Kovnats S, Stevenson RE, Schwartz CE
Am J Med Genet 1999 Jul 30;85(3):255-62. doi: 10.1002/(sici)1096-8628(19990730)85:3<255::aid-ajmg14>3.0.co;2-z. PMID: 10398239

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