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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMidline facial cleft

Phenotypic abnormality
- Abnormality of head or neck
  - Abnormality of the head
    - Craniofacial cleft
      - Tessier cleft
        Midline facial cleft
        Bifid nose
        Familial median cleft of the upper and lower lips
        Frontorhiny
        Gollop syndrome
        Median cleft of the upper lip and maxilla
        Midline cervical cleft
        Midline cleft of lower lip
        Tessier number 0 facial cleft
        Tessier number 14 facial cleft
        Tessier number 30 facial cleft

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.

See: Condition Record

Acromelic frontonasal dysostosis

Professional guidelines

PubMed

Holoprosencephaly: prenatal sonographic diagnosis.

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

See all (1)

Recent clinical studies

Etiology

True Median Cleft Lip-15 Years of Review and Prevalence.

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

See all (1)

Diagnosis

Diagnostic criteria in Pai syndrome: results of a case series and a literature review.

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

Holoprosencephaly: prenatal sonographic diagnosis.

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

See all (2)