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Cleft mandible

MedGen UID:
Concept ID:
Synonyms: Cleft lower jaw; Mandibular Cleft; Mandibular cleft
SNOMED CT: Cleft mandible (92822004); Mandibular cleft (92822004)
HPO: HP:0010752


Midline deficiency of the mandible and some or all overlying tissues. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleft mandible

Conditions with this feature

Intellectual disability-brachydactyly-Pierre Robin syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
Richieri Costa-Pereira syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).

Professional guidelines


Kruse T, Neuschulz J, Wilhelm L, Ritgen J, Braumann B
Cleft Palate Craniofac J 2021 Aug;58(8):1012-1019. Epub 2020 Nov 24 doi: 10.1177/1055665620972297. PMID: 33228397
Mackay DR
J Craniofac Surg 2011 Mar;22(2):415-20. doi: 10.1097/SCS.0b013e3182074799. PMID: 21403570
Monahan R, Seder K, Patel P, Alder M, Grud S, O'Gara M
J Am Dent Assoc 2001 Oct;132(10):1402-8. doi: 10.14219/jada.archive.2001.0055. PMID: 11680355

Recent clinical studies


Pardo MP, Santos GLD, Carvalho IMM, Tjioe KC
Cleft Palate Craniofac J 2021 Nov;58(11):1370-1375. Epub 2021 Jan 28 doi: 10.1177/1055665620987749. PMID: 33504197
Pinto RO, Peixoto AP, Pinto ADS, Richieri-Costa A, Raveli DB, Tonello C, Dalben GDS
J Craniofac Surg 2020 Jun;31(4):e356-e359. doi: 10.1097/SCS.0000000000006338. PMID: 32217860


Hiradfar M, Bakhshaee M, Shojaeian R, Zabolinejad N, Forghani M, Mirhosseini F
Int J Pediatr Otorhinolaryngol 2015 Aug;79(8):1175-9. Epub 2015 May 11 doi: 10.1016/j.ijporl.2015.04.029. PMID: 26049626
Souza J, dal Vesco K, Tonocchi R, Closs-Ono MC, Passos-Bueno MR, da Silva-Freitas R
Am J Med Genet A 2011 May;155A(5):1173-7. Epub 2011 Apr 11 doi: 10.1002/ajmg.a.33975. PMID: 21485002
Bajaj Y, Dunaway D, Hartley BE
J Laryngol Otol 2004 Jul;118(7):566-9. doi: 10.1258/0022215041615074. PMID: 15318968

Clinical prediction guides

Pardo MP, Santos GLD, Carvalho IMM, Tjioe KC
Cleft Palate Craniofac J 2021 Nov;58(11):1370-1375. Epub 2021 Jan 28 doi: 10.1177/1055665620987749. PMID: 33504197
Bertola DR, Hsia G, Alvizi L, Gardham A, Wakeling EL, Yamamoto GL, Honjo RS, Oliveira LAN, Di Francesco RC, Perez BA, Kim CA, Passos-Bueno MR
Clin Genet 2018 Apr;93(4):800-811. Epub 2018 Feb 20 doi: 10.1111/cge.13169. PMID: 29112243

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