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Hair anomaly

MedGen UID:
539624
•Concept ID:
C0265991
•
Congenital Abnormality
Synonyms: Congenital anomaly of hair; Congenital malformation of hair and hair growth; hair anomaly
SNOMED CT: Congenital anomaly of hair (65033000); Congenital malformation of hair and hair growth (65033000)
 
Monarch Initiative: MONDO:0019278
Orphanet: ORPHA79363

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHair anomaly

Professional guidelines

PubMed

Prenatal sonographic diagnosis of Aarskog syndrome.
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

Recent clinical studies

Etiology

Prenatal sonographic diagnosis of Aarskog syndrome.
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304
Helical hairs: a new hair anomaly in a patient with Netherton's syndrome.
Lurie R, Garty BZ
Cutis 1995 Jun;55(6):349-52. PMID: 7648886

Diagnosis

Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz.
Stieler KM, Bartzela T, Finke C, Blume-Peytavi U, Fischer J
Acta Derm Venereol 2020 Jul 28;100(14):adv00223. doi: 10.2340/00015555-3592. PMID: 32619014Free PMC Article
Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation.
Sheng X, Zhang S, Peter Boergen K, Li H, Liu Y
Ophthalmic Genet 2015 Mar;36(1):70-4. Epub 2013 Aug 19 doi: 10.3109/13816810.2013.824003. PMID: 23952657
Prenatal sonographic diagnosis of Aarskog syndrome.
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304
Primary osteoma cutis--multiple café-au-lait spots and woolly hair anomaly.
Ruggieri M, Pavone V, Smilari P, Rizzo R, Sorge G
Pediatr Radiol 1995;25(1):34-6. doi: 10.1007/BF02020840. PMID: 7761159

Prognosis

Helical hairs: a new hair anomaly in a patient with Netherton's syndrome.
Lurie R, Garty BZ
Cutis 1995 Jun;55(6):349-52. PMID: 7648886

Clinical prediction guides

Pili trianguli et canaliculi is a defect of inner root sheath keratinization: ultrastructural observations of anomalous tonofilament organization in a case.
Ahmed I, Subtil A, Thomas DA
Am J Dermatopathol 2005 Jun;27(3):232-6. doi: 10.1097/01.dad.0000157447.54281.3d. PMID: 15900128

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