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Midline facial cleft

MedGen UID:
867619
Concept ID:
C4022007
Congenital Abnormality
Synonyms: Median facial cleft; Tessier number 0-14 and 30 facial cleft
 
HPO: HP:0100629
Orphanet: ORPHA141234

Definition

A congenital malformation with a cleft (gap or opening) in the midline of the face. [from HPO]

Conditions with this feature

Acromelic frontonasal dysostosis
MedGen UID:
350933
Concept ID:
C1863616
Disease or Syndrome
Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Professional guidelines

PubMed

Nyberg DA, Mack LA, Bronstein A, Hirsch J, Pagon RA
AJR Am J Roentgenol 1987 Nov;149(5):1051-8. doi: 10.2214/ajr.149.5.1051. PMID: 3314428

Recent clinical studies

Etiology

Hamzan MI, Sulaiman WAW
Cleft Palate Craniofac J 2020 Aug;57(8):1051-1054. Epub 2020 Jun 1 doi: 10.1177/1055665620926346. PMID: 32476501

Diagnosis

Morice A, Galliani E, Amiel J, Rachwalski M, Neiva C, Thauvin-Robinet C, Vazquez MP, Picard A, Kadlub N
Int J Oral Maxillofac Surg 2019 Mar;48(3):283-290. Epub 2018 Sep 6 doi: 10.1016/j.ijom.2018.08.010. PMID: 30195458
Nyberg DA, Mack LA, Bronstein A, Hirsch J, Pagon RA
AJR Am J Roentgenol 1987 Nov;149(5):1051-8. doi: 10.2214/ajr.149.5.1051. PMID: 3314428

Prognosis

Golden JA, Holmes LB
Clin Dysmorphol 1994 Apr;3(2):164-70. PMID: 8055138

Clinical prediction guides

Golden JA, Holmes LB
Clin Dysmorphol 1994 Apr;3(2):164-70. PMID: 8055138

Supplemental Content

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