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Bilateral cleft palate

MedGen UID:
765998
Concept ID:
C3553084
Finding
Synonym: Cleft palate, bilateral
 
HPO: HP:0100337

Definition

Nonmidline cleft palate on the left and right sides. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Bilateral cleft palate

Conditions with this feature

Bohring-Opitz syndrome
MedGen UID:
208678
Concept ID:
C0796232
Disease or Syndrome
Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture, which is most striking in early childhood and often becomes less apparent with age, is characterized by flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints. Feeding difficulties in early childhood, including cyclic vomiting, have a significant impact on overall health; feeding tends to improve with age. Seizures are common and typically responsive to standard epileptic medications. Minor cardiac anomalies and transient bradycardia and apnea may be present. Affected individuals may experience recurrent infections, which also tend to improve with age. Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted.
Amelia cleft lip palate hydrocephalus iris coloboma
MedGen UID:
321957
Concept ID:
C1832434
Disease or Syndrome
Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).
Holoprosencephaly 7
MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Diamond-Blackfan anemia 11
MedGen UID:
766956
Concept ID:
C3554042
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Orofacial cleft 15
MedGen UID:
909661
Concept ID:
C4225209
Congenital Abnormality
Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.

Professional guidelines

PubMed

Rogers DJ, Ashland JE, Rozeboom MJ, Hartnick CJ
Int J Pediatr Otorhinolaryngol 2013 Jul;77(7):1083-7. Epub 2013 May 11 doi: 10.1016/j.ijporl.2013.03.035. PMID: 23673163
Wang G, Shan R, Zhao L, Zhu X, Zhang X
Eur J Radiol 2011 Sep;79(3):437-42. Epub 2010 Apr 24 doi: 10.1016/j.ejrad.2010.03.026. PMID: 20418035
Van Lierde KM, De Bodt M, Baetens I, Schrauwen V, Van Cauwenberge P
Folia Phoniatr Logop 2003 Mar-Apr;55(2):80-90. doi: 10.1159/000070090. PMID: 12697981

Recent clinical studies

Etiology

Vu GH, Kalmar CL, Zimmerman CE, Humphries LS, Swanson JW, Bartlett SP, Taylor JA
Cleft Palate Craniofac J 2021 May;58(5):603-611. doi: 10.1177/1055665620959528. PMID: 33840261
Astrada S, Bennun RD
J Craniofac Surg 2020 Nov/Dec;31(8):2280-2284. doi: 10.1097/SCS.0000000000006814. PMID: 33136871
Chouairi F, Mets EJ, Gabrick KS, Alperovich M
J Craniofac Surg 2019 Nov-Dec;30(8):2372-2374. doi: 10.1097/SCS.0000000000005918. PMID: 31584550
Van Lierde KM, De Bodt M, Baetens I, Schrauwen V, Van Cauwenberge P
Folia Phoniatr Logop 2003 Mar-Apr;55(2):80-90. doi: 10.1159/000070090. PMID: 12697981
Karling J, Larson O, Leanderson R, Henningsson G
Cleft Palate Craniofac J 1993 Jan;30(1):73-7. doi: 10.1597/1545-1569_1993_030_0073_siuabc_2.3.co_2. PMID: 8418875

Diagnosis

Seabra M, Vaz P, Valente F, Braga A, Felino A
Cleft Palate Craniofac J 2017 Mar;54(2):166-169. Epub 2015 Jun 19 doi: 10.1597/14-128. PMID: 26090787
Wang G, Shan R, Zhao L, Zhu X, Zhang X
Eur J Radiol 2011 Sep;79(3):437-42. Epub 2010 Apr 24 doi: 10.1016/j.ejrad.2010.03.026. PMID: 20418035
Jenwitheesuk K, Surakunprapha P, Chowchuen B, Jetsrisuparb C
J Med Assoc Thai 2010 Oct;93 Suppl 4:S78-82. PMID: 21299053
Makhoul IR, Soudack M, Kochavi O, Guilburd JN, Maimon S, Gershoni-Baruch R
Am J Med Genet A 2007 Jan 1;143A(1):64-8. doi: 10.1002/ajmg.a.31566. PMID: 17152069
Lee W, Kirk JS, Shaheen KW, Romero R, Hodges AN, Comstock CH
Ultrasound Obstet Gynecol 2000 Sep;16(4):314-20. doi: 10.1046/j.1469-0705.2000.00181.x. PMID: 11169306

Therapy

Astrada S, Bennun RD
J Craniofac Surg 2020 Nov/Dec;31(8):2280-2284. doi: 10.1097/SCS.0000000000006814. PMID: 33136871
Mahmoud AA, Fouad AZ, Mansour MA, Kamal AM
Paediatr Anaesth 2013 Apr;23(4):349-54. Epub 2012 Nov 28 doi: 10.1111/pan.12080. PMID: 23189986
Rose E, Thissen U, Otten JE, Jonas I
Cleft Palate Craniofac J 2003 Sep;40(5):498-503. doi: 10.1597/1545-1569_2003_040_0498_caotpa_2.0.co_2. PMID: 12943438
Chaisrisookumporn N, Stella JP, Epker BN
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1995 Aug;80(2):137-44. doi: 10.1016/s1079-2104(05)80192-1. PMID: 7552875
Karling J, Larson O, Leanderson R, Henningsson G
Cleft Palate Craniofac J 1993 Jan;30(1):73-7. doi: 10.1597/1545-1569_1993_030_0073_siuabc_2.3.co_2. PMID: 8418875

Prognosis

Astrada S, Bennun RD
J Craniofac Surg 2020 Nov/Dec;31(8):2280-2284. doi: 10.1097/SCS.0000000000006814. PMID: 33136871
Chouairi F, Mets EJ, Gabrick KS, Alperovich M
J Craniofac Surg 2019 Nov-Dec;30(8):2372-2374. doi: 10.1097/SCS.0000000000005918. PMID: 31584550
Bittermann GKP, de Ruiter AP, Bittermann AJ, Mink van de Molen AB, van Es RJ, Koole R, Rosenberg AJ
J Craniomaxillofac Surg 2018 Oct;46(10):1764-1771. Epub 2018 Jul 26 doi: 10.1016/j.jcms.2018.07.014. PMID: 30100383
Koppe T, Weigel C, Bärenklau M, Kaduk W, Bayerlein T, Gedrange T
J Craniomaxillofac Surg 2006 Sep;34 Suppl 2:91-5. doi: 10.1016/S1010-5182(06)60020-6. PMID: 17071400
Guthua SW, Amwayi P
East Afr Med J 1994 Oct;71(10):687-92. PMID: 7821254

Clinical prediction guides

Bittermann GKP, de Ruiter AP, Bittermann AJ, Mink van de Molen AB, van Es RJ, Koole R, Rosenberg AJ
J Craniomaxillofac Surg 2018 Oct;46(10):1764-1771. Epub 2018 Jul 26 doi: 10.1016/j.jcms.2018.07.014. PMID: 30100383
Seabra M, Vaz P, Valente F, Braga A, Felino A
Cleft Palate Craniofac J 2017 Mar;54(2):166-169. Epub 2015 Jun 19 doi: 10.1597/14-128. PMID: 26090787
Mahmoud AA, Fouad AZ, Mansour MA, Kamal AM
Paediatr Anaesth 2013 Apr;23(4):349-54. Epub 2012 Nov 28 doi: 10.1111/pan.12080. PMID: 23189986
Van Lierde KM, De Bodt M, Baetens I, Schrauwen V, Van Cauwenberge P
Folia Phoniatr Logop 2003 Mar-Apr;55(2):80-90. doi: 10.1159/000070090. PMID: 12697981
Karling J, Larson O, Leanderson R, Henningsson G
Cleft Palate Craniofac J 1993 Jan;30(1):73-7. doi: 10.1597/1545-1569_1993_030_0073_siuabc_2.3.co_2. PMID: 8418875

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