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White forelock with malformations

MedGen UID:
376362
•Concept ID:
C1848463
•
Disease or Syndrome
Synonym: WHITE FORELOCK WITH MALFORMATIONS
SNOMED CT: White forelock with malformations syndrome (763619009); White forelock with malformations (763619009)
 
Monarch Initiative: MONDO:0010199
OMIM®: 277740
Orphanet: ORPHA2475

Definition

A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980. [from SNOMEDCT_US]

Clinical features

From HPO
Aplasia/Hypoplasia of the distal phalanges of the toes
MedGen UID:
892342
•Concept ID:
C4021326
•
Finding
Absence or underdevelopment of the distal phalanges of the toes.
See: Feature record | Search on this feature
Atrial septal defect
MedGen UID:
6753
•Concept ID:
C0018817
•
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
See: Feature record | Search on this feature
Bronchomalacia
MedGen UID:
82679
•Concept ID:
C0264353
•
Disease or Syndrome
Weakness or softness of the cartilage in the walls of the bronchial tubes.
See: Feature record | Search on this feature
Poliosis
MedGen UID:
67449
•Concept ID:
C0221262
•
Disease or Syndrome
Circumscribed depigmentation of the hair of the head or the eyelashes.
See: Feature record | Search on this feature
White forelock
MedGen UID:
91023
•Concept ID:
C0344312
•
Finding
A triangular depigmented region of white hairs located in the anterior midline of the scalp.
See: Feature record | Search on this feature
Prominent veins on trunk
MedGen UID:
870425
•Concept ID:
C4024871
•
Finding
Prominent thoracic and abdominal veins.
See: Feature record | Search on this feature
Hypertelorism
MedGen UID:
9373
•Concept ID:
C0020534
•
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWhite forelock with malformations
Follow this link to review classifications for White forelock with malformations in Orphanet.

Professional guidelines

PubMed

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA
Hum Genet 1998 May;102(5):499-506. doi: 10.1007/s004390050732. PMID: 9654197
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Recent clinical studies

Etiology

Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.
Choudhry N, Rao RC
Ophthalmic Surg Lasers Imaging Retina 2015 Jun;46(6):670-3. doi: 10.3928/23258160-20150610-12. PMID: 26114849Free PMC Article
Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging.
Shields CL, Nickerson SJ, Al-Dahmash S, Shields JA
JAMA Ophthalmol 2013 Sep;131(9):1167-73. doi: 10.1001/jamaophthalmol.2013.4190. PMID: 23868078
Poliosis circumscripta: overview and underlying causes.
Sleiman R, Kurban M, Succaria F, Abbas O
J Am Acad Dermatol 2013 Oct;69(4):625-33. Epub 2013 Jul 12 doi: 10.1016/j.jaad.2013.05.022. PMID: 23850259
Cochlear implantation outcomes in children with Waardenburg syndrome.
Amirsalari S, Ajallouyean M, Saburi A, Haddadi Fard A, Abed M, Ghazavi Y
Eur Arch Otorhinolaryngol 2012 Oct;269(10):2179-83. Epub 2011 Dec 11 doi: 10.1007/s00405-011-1877-3. PMID: 22159916
Cochlear implants in Waardenburg syndrome.
Cullen RD, Zdanski C, Roush P, Brown C, Teagle H, Pillsbury HC 3rd, Buchman C
Laryngoscope 2006 Jul;116(7):1273-5. doi: 10.1097/01.mlg.0000221959.67801.9b. PMID: 16826074

Diagnosis

Case report: waardenburg syndrome.
Dumayas GL, Capó-Aponte JE
Mil Med 2015 Mar;180(3):e381-7. doi: 10.7205/MILMED-D-14-00430. PMID: 25735036
Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging.
Shields CL, Nickerson SJ, Al-Dahmash S, Shields JA
JAMA Ophthalmol 2013 Sep;131(9):1167-73. doi: 10.1001/jamaophthalmol.2013.4190. PMID: 23868078
Waardenburg syndrome--a case report.
Bansal Y, Jain P, Goyal G, Singh M, Mishra C
Cont Lens Anterior Eye 2013 Feb;36(1):49-51. Epub 2012 Oct 31 doi: 10.1016/j.clae.2012.10.083. PMID: 23121842
Waardenburg syndrome.
Tagra S, Talwar AK, Walia RL, Sidhu P
Indian J Dermatol Venereol Leprol 2006 Jul-Aug;72(4):326. doi: 10.4103/0378-6323.26718. PMID: 16880590
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Therapy

Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.
Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, Speer MC, Nance WE, Pandya A
Teratology 2000 Mar;61(3):165-71. doi: 10.1002/(SICI)1096-9926(200003)61:3<165::AID-TERA3>3.0.CO;2-E. PMID: 10661905

Prognosis

Poliosis circumscripta: overview and underlying causes.
Sleiman R, Kurban M, Succaria F, Abbas O
J Am Acad Dermatol 2013 Oct;69(4):625-33. Epub 2013 Jul 12 doi: 10.1016/j.jaad.2013.05.022. PMID: 23850259
Association of Shah-Waardenburgh syndrome: a review of 6 cases.
Jan IA, Stroedter L, Haq AU, Din ZU
J Pediatr Surg 2008 Apr;43(4):744-7. doi: 10.1016/j.jpedsurg.2007.11.023. PMID: 18405726
Cochlear implants in Waardenburg syndrome.
Cullen RD, Zdanski C, Roush P, Brown C, Teagle H, Pillsbury HC 3rd, Buchman C
Laryngoscope 2006 Jul;116(7):1273-5. doi: 10.1097/01.mlg.0000221959.67801.9b. PMID: 16826074
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA
Hum Genet 1998 May;102(5):499-506. doi: 10.1007/s004390050732. PMID: 9654197
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.
Morell R, Friedman TB, Moeljopawiro S, Hartono, Soewito, Asher JH Jr
Hum Mol Genet 1992 Jul;1(4):243-7. doi: 10.1093/hmg/1.4.243. PMID: 1303193

Clinical prediction guides

Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.
Marta SN, Kawakami RY, Sgavioli CA, Correa AE, D'Árk de Oliveira El Kadre G, Carvalho RS
J Contemp Dent Pract 2016 Aug 1;17(8):702-5. doi: 10.5005/jp-journals-10024-1915. PMID: 27659091
Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.
Akal A, Göncü T, Boyaci N, Yılmaz ÖF
BMJ Case Rep 2013 Dec 18;2013 doi: 10.1136/bcr-2013-201140. PMID: 24351514Free PMC Article
Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
Yang T, Li X, Huang Q, Li L, Chai Y, Sun L, Wang X, Zhu Y, Wang Z, Huang Z, Li Y, Wu H
Clin Genet 2013 Jan;83(1):78-82. Epub 2012 Mar 5 doi: 10.1111/j.1399-0004.2012.01853.x. PMID: 22320238
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA
Hum Genet 1998 May;102(5):499-506. doi: 10.1007/s004390050732. PMID: 9654197
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.
Bard LA
Arch Ophthalmol 1978 Jul;96(7):1193-8. doi: 10.1001/archopht.1978.03910060027006. PMID: 666627

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