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Hyperplasia of the maxilla

MedGen UID:
892487
Concept ID:
C2227090
Finding
Synonyms: Maxillary hyperplasia; Overgrowth of the maxilla
 
HPO: HP:0430028

Definition

Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperplasia of the maxilla

Conditions with this feature

Langer-Giedion syndrome
MedGen UID:
6009
Concept ID:
C0023003
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.
Roberts-SC phocomelia syndrome
MedGen UID:
95931
Concept ID:
C0392475
Disease or Syndrome
ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.
Uruguay Faciocardiomusculoskeletal syndrome
MedGen UID:
335320
Concept ID:
C1846010
Disease or Syndrome
Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).
Faciocardiomelic syndrome
MedGen UID:
436265
Concept ID:
C2674798
Disease or Syndrome
Intellectual disability, anterior maxillary protrusion, and strabismus
MedGen UID:
462274
Concept ID:
C3150924
Disease or Syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of severe intellectual disability, strabismus and anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.
SIN3A-related intellectual disability syndrome due to a point mutation
MedGen UID:
934771
Concept ID:
C4310804
Disease or Syndrome
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021).
Skraban-Deardorff syndrome
MedGen UID:
1627555
Concept ID:
C4539927
Disease or Syndrome
WDR26-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. Affected individuals are generally described as happy and socially engaging; several have stereotypies / autistic features (repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation).
Intellectual developmental disorder, autosomal recessive 69
MedGen UID:
1676539
Concept ID:
C5193067
Disease or Syndrome
Intellectual developmental disorder 60 with seizures
MedGen UID:
1684702
Concept ID:
C5231497
Disease or Syndrome
Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019).
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
MedGen UID:
1824061
Concept ID:
C5774288
Disease or Syndrome
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies (NEDGEF) is an autosomal recessive disorder characterized by these features as well as hypotonia and global developmental delay with impaired intellectual development. The severity is variable, even within families. Death in early childhood has been reported in 1 family (Alsaif et al., 2021).

Professional guidelines

PubMed

Mariathasan S, Andrews KA, Thompson E, Challis BG, Wilcox S, Pierce H, Hale J, Spiden S, Fuller G, Simpson HL, Fish B, Jani P, Seetho I, Armstrong R, Izatt L, Joshi M, Velusamy A, Park SM, Casey RT
Clin Endocrinol (Oxf) 2020 Oct;93(4):409-418. Epub 2020 Jun 12 doi: 10.1111/cen.14254. PMID: 32430905
Delli K, Livas C, Sculean A, Katsaros C, Bornstein MM
Quintessence Int 2013 Feb;44(2):177-87. doi: 10.3290/j.qi.a28925. PMID: 23444184
Marchetti C, Cocchi R, Gentile L, Bianchi A
J Craniofac Surg 2000 Jan;11(1):46-53. doi: 10.1097/00001665-200011010-00009. PMID: 11314100

Recent clinical studies

Etiology

Messer JG, La S, Kipp DE, Castillo EJ, Yarrow JF, Jorgensen M, Wnek RD, Kimmel DB, Aguirre JI
Comp Med 2019 Oct 1;69(5):384-400. doi: 10.30802/AALAS-CM-18-000113. PMID: 31575381Free PMC Article
Sun R, Sun L, Li G, Sun Z, Zhao Y, Ma X, Sun C
Int J Pediatr Otorhinolaryngol 2019 Oct;125:107-112. Epub 2019 Jun 30 doi: 10.1016/j.ijporl.2019.06.032. PMID: 31280031
Chrcanovic BR, Freire-Maia B
Oral Maxillofac Surg 2010 Sep;14(3):187-91. doi: 10.1007/s10006-009-0200-6. PMID: 20091417
Singh GD
Clin Anat 1999;12(5):382-405. doi: 10.1002/(SICI)1098-2353(1999)12:5<382::AID-CA9>3.0.CO;2-0. PMID: 10462736
Tolman DE, Laney WR
Int J Oral Maxillofac Implants 1992 Winter;7(4):477-84. PMID: 1299643

Diagnosis

Tchernev G, Kandathil LJ, Oliveira N
Wien Med Wochenschr 2023 Sep;173(11-12):249-250. Epub 2021 Nov 4 doi: 10.1007/s10354-021-00894-y. PMID: 34735668
Vargo RJ, Bilodeau EA
J Am Dent Assoc 2019 Feb;150(2):147-153.e2. Epub 2018 Dec 7 doi: 10.1016/j.adaj.2018.10.001. PMID: 30528764
Wassef HR, Colletti PM
Dent Clin North Am 2018 Jul;62(3):491-509. doi: 10.1016/j.cden.2018.03.008. PMID: 29903564
Gupta J, Daniel JM, Vasudevan V
J Indian Soc Pedod Prev Dent 2012 Jul-Sep;30(3):279-82. doi: 10.4103/0970-4388.105026. PMID: 23263437
Chrcanovic BR, Freire-Maia B
Oral Maxillofac Surg 2010 Sep;14(3):187-91. doi: 10.1007/s10006-009-0200-6. PMID: 20091417

Therapy

Liles SI, C Hoppe I, Arnold L
Cleft Palate Craniofac J 2023 Dec;60(12):1665-1673. Epub 2022 Jul 12 doi: 10.1177/10556656221113891. PMID: 35821585
Diniz JA, Siqueira ADS, Torres LHS, Faro TF, Rodrigues EDR, Laureano Filho JR
J Craniofac Surg 2019 Oct;30(7):e679-e681. doi: 10.1097/SCS.0000000000005762. PMID: 31306383
Muradin MS, Rosenberg A, van der Bilt A, Stoelinga PJ, Koole R
J Craniomaxillofac Surg 2009 Sep;37(6):334-40. Epub 2009 May 28 doi: 10.1016/j.jcms.2009.03.004. PMID: 19477655
Lafzi A, Farahani RM, Shoja MA
Med Oral Patol Oral Cir Bucal 2006 Nov 1;11(6):E480-2. PMID: 17072250
Tolman DE, Laney WR
Int J Oral Maxillofac Implants 1992 Winter;7(4):477-84. PMID: 1299643

Prognosis

Son JH, Marshall DC, Valiathan M, Otteson T, Ferretti G, Grigorian PA, Rosen C, Becker D, Rowe D, Soltanian H, Lakin G
Cleft Palate Craniofac J 2019 Jan;56(1):90-93. Epub 2018 May 22 doi: 10.1177/1055665618774008. PMID: 29787301
Xu M, Chan FC, Jin X, Xu J, Lu J, Zhang C, Teng L
J Craniofac Surg 2014 Mar;25(2):355-8. doi: 10.1097/01.scs.0000436673.77122.00. PMID: 24448522
Chrcanovic BR, Freire-Maia B
Oral Maxillofac Surg 2010 Sep;14(3):187-91. doi: 10.1007/s10006-009-0200-6. PMID: 20091417
Marchetti C, Cocchi R, Gentile L, Bianchi A
J Craniofac Surg 2000 Jan;11(1):46-53. doi: 10.1097/00001665-200011010-00009. PMID: 11314100
Singh GD
Clin Anat 1999;12(5):382-405. doi: 10.1002/(SICI)1098-2353(1999)12:5<382::AID-CA9>3.0.CO;2-0. PMID: 10462736

Clinical prediction guides

Vernucci RA, Da Mommio L, Vellone V, De Stefano A, Barbato E, Di Giorgio R, Galluccio G
Orthod Craniofac Res 2023 Nov;26(4):576-584. Epub 2023 Mar 18 doi: 10.1111/ocr.12652. PMID: 36912723
Gupta DK, Singh SP, Utreja A, Verma S
J Craniofac Surg 2022 Nov-Dec 01;33(8):e848-e853. Epub 2022 Aug 10 doi: 10.1097/SCS.0000000000008783. PMID: 35946819
Theofilou VI, Pettas E, Georgaki M, Daskalopoulos A, Nikitakis NG
Oral Surg Oral Med Oral Pathol Oral Radiol 2021 Mar;131(3):329-338. Epub 2020 Nov 5 doi: 10.1016/j.oooo.2020.10.024. PMID: 33309266
Siamantas I, Kalogirou EM, Tosios KI, Fourmousis I, Sklavounou A
Head Neck Pathol 2018 Dec;12(4):517-521. Epub 2018 Mar 6 doi: 10.1007/s12105-018-0903-9. PMID: 29512024Free PMC Article
Xu M, Chan FC, Jin X, Xu J, Lu J, Zhang C, Teng L
J Craniofac Surg 2014 Mar;25(2):355-8. doi: 10.1097/01.scs.0000436673.77122.00. PMID: 24448522

Recent systematic reviews

Delli K, Livas C, Sculean A, Katsaros C, Bornstein MM
Quintessence Int 2013 Feb;44(2):177-87. doi: 10.3290/j.qi.a28925. PMID: 23444184

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