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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

Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
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).
Anophthalmia plus syndrome
MedGen UID:
322166
Concept ID:
C1833339
Disease or Syndrome
A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Holoprosencephaly 2
MedGen UID:
322517
Concept ID:
C1834877
Disease or Syndrome
A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.
Holoprosencephaly 9
MedGen UID:
324369
Concept ID:
C1835819
Disease or Syndrome
Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
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).
17q11.2 microduplication syndrome
MedGen UID:
501218
Concept ID:
C3495679
Disease or Syndrome
Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.
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.
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
MedGen UID:
1714169
Concept ID:
C5394221
Disease or Syndrome
Nabais Sa-de Vries syndrome type 2 (NSDVS2) is characterized by global developmental delay apparent from birth and distinctive dysmorphic facial features. Most patients have additional anomalies, including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities, such as hypothyroidism (summary by Nabais Sa et al., 2020).
Bartsocas-Papas syndrome 2
MedGen UID:
1778443
Concept ID:
C5543445
Disease or Syndrome
Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by Leslie et al., 2015).

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

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
Kim J, Uhm KI, Shin D, Lee J, Choi H
J Craniofac Surg 2015 Jun;26(4):1178-81. doi: 10.1097/SCS.0000000000001568. PMID: 26080153
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

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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