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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.
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.
Bronchomalacia
MedGen UID:
82679
Concept ID:
C0264353
Disease or Syndrome
Weakness or softness of the cartilage in the walls of the bronchial tubes.
Poliosis
MedGen UID:
67449
Concept ID:
C0221262
Disease or Syndrome
Circumscribed depigmentation of the hair of the head or the eyelashes.
White forelock
MedGen UID:
91023
Concept ID:
C0344312
Finding
A triangular depigmented region of white hairs located in the anterior midline of the scalp.
Prominent veins on trunk
MedGen UID:
870425
Concept ID:
C4024871
Finding
Prominent thoracic and abdominal veins.
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).

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

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
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

Therapy

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

Sun F, Xiao M, Ji D, Zheng F, Shi T
Orphanet J Rare Dis 2024 Jun 6;19(1):226. doi: 10.1186/s13023-024-03220-y. PMID: 38844942Free PMC Article
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
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
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
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

Clinical prediction guides

Sun F, Xiao M, Ji D, Zheng F, Shi T
Orphanet J Rare Dis 2024 Jun 6;19(1):226. doi: 10.1186/s13023-024-03220-y. PMID: 38844942Free PMC Article
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
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
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
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

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