U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Piebald trait-neurologic defects syndrome

MedGen UID:
358177
Concept ID:
C1868311
Disease or Syndrome
Synonyms: Piebald trait neurologic defects; PIEBALD TRAIT WITH NEUROLOGIC DEFECTS; Telfer Sugar Jaeger syndrome; White forelock and leukoderma with neurological impairment
SNOMED CT: Piebald trait with neurologic defects syndrome (773984007); Telfer Sugar Jaeger syndrome (773984007)
 
Monarch Initiative: MONDO:0008245
OMIM®: 172850
Orphanet: ORPHA2885

Definition

A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. [from SNOMEDCT_US]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
White forelock
MedGen UID:
91023
Concept ID:
C0344312
Finding
A triangular depigmented region of white hairs located in the anterior midline of the scalp.
Absent pigmentation of the ventral chest
MedGen UID:
870403
Concept ID:
C4024848
Disease or Syndrome
Lack of skin pigmentation (coloring) of the anterior chest.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPiebald trait-neurologic defects syndrome
Follow this link to review classifications for Piebald trait-neurologic defects syndrome in Orphanet.

Recent clinical studies

Etiology

Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P
Medicina (Kaunas) 2019 Jul 7;55(7) doi: 10.3390/medicina55070345. PMID: 31284637Free PMC Article
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, Aricò M
Cell Mol Life Sci 2012 Jan;69(1):29-40. Epub 2011 Oct 12 doi: 10.1007/s00018-011-0835-y. PMID: 21990010Free PMC Article
Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M
Nat Genet 1998 Feb;18(2):171-3. doi: 10.1038/ng0298-171. PMID: 9462749
Rajab A, Freeman NV, Patton MA
J Pediatr Surg 1997 May;32(5):724-7. doi: 10.1016/s0022-3468(97)90015-4. PMID: 9165461

Diagnosis

Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM
Scand J Immunol 2021 Jun;93(6):e13034. Epub 2021 Mar 20 doi: 10.1111/sji.13034. PMID: 33660295
Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M
Pan Afr Med J 2018;29:75. Epub 2018 Jan 25 doi: 10.11604/pamj.2018.29.75.12353. PMID: 29875956Free PMC Article
Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, Peker E, Atmaca M, Genel F, Bozabali S, Akin H, Ozkinay C
J Pediatr Hematol Oncol 2012 Oct;34(7):541-4. doi: 10.1097/MPH.0b013e31826781ad. PMID: 22983416
Cağdaş D, Ozgür TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O
Eur J Pediatr 2012 Oct;171(10):1527-31. Epub 2012 Jun 19 doi: 10.1007/s00431-012-1765-x. PMID: 22711375
Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, Aricò M
Cell Mol Life Sci 2012 Jan;69(1):29-40. Epub 2011 Oct 12 doi: 10.1007/s00018-011-0835-y. PMID: 21990010Free PMC Article

Therapy

Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M
Pan Afr Med J 2018;29:75. Epub 2018 Jan 25 doi: 10.11604/pamj.2018.29.75.12353. PMID: 29875956Free PMC Article
Hornyak TJ
Adv Dermatol 2006;22:201-18. doi: 10.1016/j.yadr.2006.09.002. PMID: 17249303
Bizario JC, Feldmann J, Castro FA, Ménasché G, Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM
J Clin Immunol 2004 Jul;24(4):397-410. doi: 10.1023/B:JOCI.0000029119.83799.cb. PMID: 15163896

Prognosis

Christen M, de le Roi M, Jagannathan V, Becker K, Leeb T
Genes (Basel) 2021 Sep 23;12(10) doi: 10.3390/genes12101479. PMID: 34680875Free PMC Article
Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM
Scand J Immunol 2021 Jun;93(6):e13034. Epub 2021 Mar 20 doi: 10.1111/sji.13034. PMID: 33660295
Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M
Pan Afr Med J 2018;29:75. Epub 2018 Jan 25 doi: 10.11604/pamj.2018.29.75.12353. PMID: 29875956Free PMC Article
Cağdaş D, Ozgür TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O
Eur J Pediatr 2012 Oct;171(10):1527-31. Epub 2012 Jun 19 doi: 10.1007/s00431-012-1765-x. PMID: 22711375
Rajab A, Freeman NV, Patton MA
J Pediatr Surg 1997 May;32(5):724-7. doi: 10.1016/s0022-3468(97)90015-4. PMID: 9165461

Clinical prediction guides

Christen M, de le Roi M, Jagannathan V, Becker K, Leeb T
Genes (Basel) 2021 Sep 23;12(10) doi: 10.3390/genes12101479. PMID: 34680875Free PMC Article
Bizario JC, Feldmann J, Castro FA, Ménasché G, Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM
J Clin Immunol 2004 Jul;24(4):397-410. doi: 10.1023/B:JOCI.0000029119.83799.cb. PMID: 15163896
Rajab A, Freeman NV, Patton MA
J Pediatr Surg 1997 May;32(5):724-7. doi: 10.1016/s0022-3468(97)90015-4. PMID: 9165461
Ortonne JP
Dermatol Clin 1988 Apr;6(2):205-16. PMID: 3288381
Perrot H, Ortonne JP, Thivolet J
Acta Derm Venereol 1977;57(3):195-200. PMID: 71821

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...