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Abnormal hair whorl

MedGen UID:
481933
Concept ID:
C3280303
Finding
Synonym: Abnormal hair whorls
 
HPO: HP:0010721

Definition

An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). [from HPO]

Conditions with this feature

Syndromic X-linked intellectual disability Nascimento type
MedGen UID:
477095
Concept ID:
C3275464
Disease or Syndrome
The Nascimento type of X-linked syndromic intellectual developmental disorder (MRXSN) is characterized by dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. Female carriers have normal cognition, but may show subtle facial features (summary by Budny et al., 2010).
Microcephaly-capillary malformation syndrome
MedGen UID:
481926
Concept ID:
C3280296
Disease or Syndrome
The defining clinical characteristics of the microcephaly-capillary malformation (MIC-CAP) syndrome are typically present at birth: microcephaly and generalized cutaneous capillary malformations (a few to hundreds of oval/circular macules or patches varying in size from 1-2 mm to several cm), hypoplastic distal phalanges of the hands and/or feet, early-onset intractable epilepsy, and profound developmental delay. Seizures, which can be focal, tonic, and complex partial and can include infantile spasms, appear to stabilize after age two years. Myoclonus of the limbs and eyelids is common; other abnormal movements (dyskinetic, choreiform) may be seen. To date, the diagnosis has been confirmed in 18 individuals from 15 families.
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
MedGen UID:
899880
Concept ID:
C4225352
Disease or Syndrome
PPP2R1A-related neurodevelopmental disorder (NDD) is characterized by: severe, persistent hypotonia; developmental delay with variable intellectual outcomes, typically in the moderate-to-severe intellectual disability range; seizures (more commonly seen in individuals with microcephaly and/or severe intellectual disability); attention-deficit/hyperactivity disorder and other behavioral problems (anxiousness, repetitive movements, self-injurious or destructive behavior, and autism spectrum disorder); feeding and swallowing issues; and dysmorphic features of the head and face. A minority of affected individuals have ear anomalies, hearing loss, ptosis, generalized joint hypermobility, and patent ductus arteriosus. Brain MRI findings are nonspecific but typically include complete or partial agenesis of the corpus callosum. Nonprogressive ventriculomegaly may be seen in a subset of affected individuals and is often associated with specific pathogenic variants in PPP2R1A: c.544C>T (p.Arg182Trp) and c.547C>T (p.Arg183Trp).

Recent clinical studies

Etiology

Csabi G, Zsuppán R, Jeges S, Tényi T
Neuropsychopharmacol Hung 2014 Sep;16(3):115-20. PMID: 25347240
Ozgen H, Hellemann GS, de Jonge MV, Beemer FA, van Engeland H
J Autism Dev Disord 2013 Jan;43(1):147-55. doi: 10.1007/s10803-012-1554-4. PMID: 22669539Free PMC Article
Kapoor S, Bhuhsan S, Ghosh VB, Pandey RM, Kalaivani M
Indian J Pediatr 2012 May;79(5):619-31. Epub 2011 Nov 9 doi: 10.1007/s12098-011-0572-0. PMID: 22069166
Akabaliev VH, Sivkov ST, Mantarkov MJ, Ahmed-Popova FM
Folia Med (Plovdiv) 2011 Jul-Sep;53(3):45-51. doi: 10.2478/v10153-011-0056-z. PMID: 22359982
Tirosh E, Jaffe M, Dar H
Eur J Pediatr 1987 Nov;146(6):568-70. doi: 10.1007/BF02467355. PMID: 3428291

Diagnosis

Peña-Romero AG, Sáez-de-Ocariz M, Toussaint-Caire S, Morán-Villaseñor E, Orozco-Covarrubias L, Durán-McKinster C
Pediatr Dermatol 2021 Mar;38(2):442-448. Epub 2020 Oct 21 doi: 10.1111/pde.14415. PMID: 33085121
Ozgen H, Hellemann GS, de Jonge MV, Beemer FA, van Engeland H
J Autism Dev Disord 2013 Jan;43(1):147-55. doi: 10.1007/s10803-012-1554-4. PMID: 22669539Free PMC Article
Kapoor S, Bhuhsan S, Ghosh VB, Pandey RM, Kalaivani M
Indian J Pediatr 2012 May;79(5):619-31. Epub 2011 Nov 9 doi: 10.1007/s12098-011-0572-0. PMID: 22069166
Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP
Am J Med Genet A 2007 Nov 15;143A(22):2700-5. doi: 10.1002/ajmg.a.32005. PMID: 17937441

Therapy

Akabaliev VH, Sivkov ST, Mantarkov MJ, Ahmed-Popova FM
Folia Med (Plovdiv) 2011 Jul-Sep;53(3):45-51. doi: 10.2478/v10153-011-0056-z. PMID: 22359982
Böni R, Trüeb RM, Wüthrich B
Dermatology 1995;191(1):68-71. doi: 10.1159/000246494. PMID: 8589491

Prognosis

Ozgen H, Hellemann GS, de Jonge MV, Beemer FA, van Engeland H
J Autism Dev Disord 2013 Jan;43(1):147-55. doi: 10.1007/s10803-012-1554-4. PMID: 22669539Free PMC Article
Akabaliev VH, Sivkov ST, Mantarkov MJ, Ahmed-Popova FM
Folia Med (Plovdiv) 2011 Jul-Sep;53(3):45-51. doi: 10.2478/v10153-011-0056-z. PMID: 22359982
Gourion D, Goldberger C, Bourdel MC, Jean Bayle F, Lôo H, Krebs MO
Psychiatry Res 2004 Jan 30;125(1):21-8. doi: 10.1016/j.psychres.2003.06.001. PMID: 14967549
Böni R, Trüeb RM, Wüthrich B
Dermatology 1995;191(1):68-71. doi: 10.1159/000246494. PMID: 8589491

Clinical prediction guides

Peña-Romero AG, Sáez-de-Ocariz M, Toussaint-Caire S, Morán-Villaseñor E, Orozco-Covarrubias L, Durán-McKinster C
Pediatr Dermatol 2021 Mar;38(2):442-448. Epub 2020 Oct 21 doi: 10.1111/pde.14415. PMID: 33085121
Ozgen H, Hellemann GS, de Jonge MV, Beemer FA, van Engeland H
J Autism Dev Disord 2013 Jan;43(1):147-55. doi: 10.1007/s10803-012-1554-4. PMID: 22669539Free PMC Article
Akabaliev VH, Sivkov ST, Mantarkov MJ, Ahmed-Popova FM
Folia Med (Plovdiv) 2011 Jul-Sep;53(3):45-51. doi: 10.2478/v10153-011-0056-z. PMID: 22359982
Norval EJ, van Wyk CW, Basson NJ, Coldrey J
Pediatr Dermatol 1988 Aug;5(3):159-66. doi: 10.1111/j.1525-1470.1988.tb01162.x. PMID: 3205855
David TJ, Osborne CM
J Med Genet 1976 Apr;13(2):123-6. doi: 10.1136/jmg.13.2.123. PMID: 132531Free PMC Article

Recent systematic reviews

Furdon SA, Clark DA
Adv Neonatal Care 2003 Dec;3(6):286-96. doi: 10.1016/j.adnc.2003.09.005. PMID: 14695500

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