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Fair hair

MedGen UID:
336542
Concept ID:
C1849221
Finding
Synonyms: Blond hair; Blonde hair; Light colored hair; Light-colored hair; Lighter hair color; Lighter-colored hair
SNOMED CT: Blonde hair (297995004)
 
HPO: HP:0002286

Definition

A lesser degree of hair pigmentation than would otherwise be expected. [from HPO]

Conditions with this feature

Phenylketonuria
MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.
Angelman syndrome
MedGen UID:
58144
Concept ID:
C0162635
Disease or Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year.
Johanson-Blizzard syndrome
MedGen UID:
59798
Concept ID:
C0175692
Disease or Syndrome
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Metaphyseal chondrodysplasia, McKusick type
MedGen UID:
67398
Concept ID:
C0220748
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.
3-Methylglutaconic aciduria type 2
MedGen UID:
107893
Concept ID:
C0574083
Disease or Syndrome
Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. Cardiomyopathy, which is almost always present before age five years, is typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction; hypertrophic cardiomyopathy can also occur. Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies.
Chromosome 9p deletion syndrome
MedGen UID:
167073
Concept ID:
C0795830
Disease or Syndrome
A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Sialic acid storage disease, severe infantile type
MedGen UID:
203367
Concept ID:
C1096902
Disease or Syndrome
Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.
Hermansky-Pudlak syndrome 2
MedGen UID:
374912
Concept ID:
C1842362
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Saldino-Mainzer syndrome
MedGen UID:
341455
Concept ID:
C1849437
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
MedGen UID:
343663
Concept ID:
C1851841
Disease or Syndrome
An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
ADULT syndrome
MedGen UID:
400232
Concept ID:
C1863204
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Koolen-de Vries syndrome
MedGen UID:
355853
Concept ID:
C1864871
Disease or Syndrome
Koolen-de Vries syndrome (KdVS) is characterized by developmental delay / intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other findings include speech and language delay (100%), epilepsy (~33%), congenital heart defects (25%-50%), renal and urologic anomalies (25%-50%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative.
Hypotrichosis 8
MedGen UID:
481100
Concept ID:
C3279470
Disease or Syndrome
Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006). Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011). Woolly hair is also a feature of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (601214) (Carvajal-Huerta, 1998). Genetic Heterogeneity of Hypotrichosis and Woolly Hair For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; 607903). Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; 604379) is caused by mutation in the LIPH gene (607365) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (616760) is caused by mutation in the KRT25 gene (616646) on chromosome 17q21. An autosomal dominant form of woolly hair with hypotrichosis (HYPT13; 615896) is caused by mutation in the KRT71 gene (608245) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH; 194300) with normal hair density is caused by mutation in the KRT74 gene (608248) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3; 613981) as well as an ectodermal dysplasia of the hair/nail type (ECTD7; 614929).
Acrodysostosis 2 with or without hormone resistance
MedGen UID:
766164
Concept ID:
C3553250
Disease or Syndrome
Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800).
Oculocutaneous albinism type 6
MedGen UID:
811705
Concept ID:
C3805375
Disease or Syndrome
Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by Wei et al., 2013). For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 (227220).
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
MedGen UID:
1711370
Concept ID:
C5394135
Disease or Syndrome
Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly. The phenotype is highly variable: some patients may show ataxia and some may have seizures (summary by Hu et al., 2019).
Hermansky-Pudlak syndrome 11
MedGen UID:
1727728
Concept ID:
C5436936
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.

Professional guidelines

PubMed

Guarneri F, Asmundo A, Sapienza D, Borgia F, Papaianni V, Cannavo' SP
G Ital Dermatol Venereol 2016 Apr;151(2):140-4. Epub 2015 Jan 14 PMID: 25588060
Dwyer T, van der Mei I, Ponsonby AL, Taylor BV, Stankovich J, McKay JD, Thomson RJ, Polanowski AM, Dickinson JL
Neurology 2008 Aug 19;71(8):583-9. doi: 10.1212/01.wnl.0000323928.57408.93. PMID: 18711112
Smith G, Wilkie MJ, Deeni YY, Farr PM, Ferguson J, Wolf CR, Ibbotson SH
Br J Dermatol 2007 Dec;157(6):1230-4. Epub 2007 Oct 4 doi: 10.1111/j.1365-2133.2007.08209.x. PMID: 17916200

Recent clinical studies

Etiology

Davey J, Spring G
Forensic Sci Med Pathol 2020 Jun;16(2):207-215. Epub 2020 May 14 doi: 10.1007/s12024-020-00225-4. PMID: 32410108
Pastor-Tomás N, Martínez-Franco A, Bañuls J, Peñalver JC, Traves V, García-Casado Z, Requena C, Kumar R, Nagore E
J Eur Acad Dermatol Venereol 2020 Oct;34(10):2295-2302. Epub 2020 May 20 doi: 10.1111/jdv.16341. PMID: 32163215
Ridaura-Sanz C, Durán-McKinster C, Ruiz-Maldonado R
Pediatr Dermatol 2018 Nov;35(6):780-783. Epub 2018 Oct 18 doi: 10.1111/pde.13624. PMID: 30338556
Cercato MC, Ramazzotti V, Sperduti I, Asensio-Pascual A, Ribes I, Guillén C, Nagore E
J Cancer Educ 2015 Mar;30(1):4-11. doi: 10.1007/s13187-014-0671-5. PMID: 24890922
Armstrong BK, Holman CD
Bull World Health Organ 1987;65(2):245-52. PMID: 3301043Free PMC Article

Diagnosis

Lewandowska A, Lewandowski T, Rudzki G, Próchnicki M, Laskowska B, Pavlov S, Vlasenko O, Rudzki S, Wójcik W
Asian Pac J Cancer Prev 2023 Jul 1;24(7):2259-2269. doi: 10.31557/APJCP.2023.24.7.2259. PMID: 37505755Free PMC Article
Pastor-Tomás N, Martínez-Franco A, Bañuls J, Peñalver JC, Traves V, García-Casado Z, Requena C, Kumar R, Nagore E
J Eur Acad Dermatol Venereol 2020 Oct;34(10):2295-2302. Epub 2020 May 20 doi: 10.1111/jdv.16341. PMID: 32163215
Ridaura-Sanz C, Durán-McKinster C, Ruiz-Maldonado R
Pediatr Dermatol 2018 Nov;35(6):780-783. Epub 2018 Oct 18 doi: 10.1111/pde.13624. PMID: 30338556
Cercato MC, Ramazzotti V, Sperduti I, Asensio-Pascual A, Ribes I, Guillén C, Nagore E
J Cancer Educ 2015 Mar;30(1):4-11. doi: 10.1007/s13187-014-0671-5. PMID: 24890922
Armstrong BK, Holman CD
Bull World Health Organ 1987;65(2):245-52. PMID: 3301043Free PMC Article

Therapy

Lewandowska A, Lewandowski T, Rudzki G, Próchnicki M, Laskowska B, Pavlov S, Vlasenko O, Rudzki S, Wójcik W
Asian Pac J Cancer Prev 2023 Jul 1;24(7):2259-2269. doi: 10.31557/APJCP.2023.24.7.2259. PMID: 37505755Free PMC Article
Trelles MA, Almudever P, Alcolea JM, Cortijo J, Serrano G, Expósito I, Royo J, Leclère FM
J Drugs Dermatol 2016 May 1;15(5):615-25. PMID: 27168270
Guarneri F, Asmundo A, Sapienza D, Borgia F, Papaianni V, Cannavo' SP
G Ital Dermatol Venereol 2016 Apr;151(2):140-4. Epub 2015 Jan 14 PMID: 25588060
Cercato MC, Ramazzotti V, Sperduti I, Asensio-Pascual A, Ribes I, Guillén C, Nagore E
J Cancer Educ 2015 Mar;30(1):4-11. doi: 10.1007/s13187-014-0671-5. PMID: 24890922
Zanetti R, Rosso S, Martinez C, Navarro C, Schraub S, Sancho-Garnier H, Franceschi S, Gafà L, Perea E, Tormo MJ, Laurent R, Schrameck C, Cristofolini M, Tumino R, Wechsler J
Br J Cancer 1996 Jun;73(11):1440-6. doi: 10.1038/bjc.1996.274. PMID: 8645595Free PMC Article

Prognosis

Cercato MC, Ramazzotti V, Sperduti I, Asensio-Pascual A, Ribes I, Guillén C, Nagore E
J Cancer Educ 2015 Mar;30(1):4-11. doi: 10.1007/s13187-014-0671-5. PMID: 24890922
Raulin C, Greve B
Eur J Dermatol 2000 Mar;10(2):103-6. PMID: 10694307
Smyrnis PN, Valavanis J, Alexopoulos A, Siderakis G, Giannestras NJ
J Bone Joint Surg Br 1979 May;61-B(2):215-7. doi: 10.1302/0301-620X.61B2.438274. PMID: 438274

Clinical prediction guides

Davey J, Spring G
Forensic Sci Med Pathol 2020 Jun;16(2):207-215. Epub 2020 May 14 doi: 10.1007/s12024-020-00225-4. PMID: 32410108
Ridaura-Sanz C, Durán-McKinster C, Ruiz-Maldonado R
Pediatr Dermatol 2018 Nov;35(6):780-783. Epub 2018 Oct 18 doi: 10.1111/pde.13624. PMID: 30338556
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC
Am J Hum Genet 2016 Dec 1;99(6):1292-1304. Epub 2016 Nov 17 doi: 10.1016/j.ajhg.2016.10.004. PMID: 27866708Free PMC Article
Cercato MC, Ramazzotti V, Sperduti I, Asensio-Pascual A, Ribes I, Guillén C, Nagore E
J Cancer Educ 2015 Mar;30(1):4-11. doi: 10.1007/s13187-014-0671-5. PMID: 24890922
Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D, Edery P
Am J Med Genet A 2014 Jun;164A(6):1571-5. Epub 2014 Mar 25 doi: 10.1002/ajmg.a.36484. PMID: 24668549

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