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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.
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

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

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

Prognosis

The face-brain relationship: a case of the face not predicting the brain.
Golden JA, Holmes LB
Clin Dysmorphol 1994 Apr;3(2):164-70. PMID: 8055138

Clinical prediction guides

The face-brain relationship: a case of the face not predicting the brain.
Golden JA, Holmes LB
Clin Dysmorphol 1994 Apr;3(2):164-70. PMID: 8055138

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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      Related information in PubMed Central Links
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      Related literature resources in PubMed

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      Midline facial cleft
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    • Gonadal Dysgenesis
      Gonadal Dysgenesis
      A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected...<br/>Year introduced: 1980
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