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Hemifacial hypertrophy

MedGen UID:
452987
Concept ID:
C1399354
Disease or Syndrome; Finding
Synonyms: FACIAL HEMIHYPERTROPHY; Hemifacial hyperplasia
SNOMED CT: Hemifacial hyperplasia (697962004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0005323
Monarch Initiative: MONDO:0007590
OMIM®: 133900
Orphanet: ORPHA141145

Definition

The criteria for the hemifacial type of congenital hypertrophy are (1) unilateral enlargement of the viscerocranium bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline of the face, and laterally by the ear, the pinna being included within the hypertropic area, and (2) enlargement of all tissues--teeth, bone, and soft tissue--within this area (Rowe, 1962). [from OMIM]

Clinical features

From HPO
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemifacial hypertrophy

Conditions with this feature

Bencze syndrome
MedGen UID:
330655
Concept ID:
C1841640
Disease or Syndrome
A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.

Professional guidelines

PubMed

Defazio G, Lepore V, Lamberti P, Livrea P, Ferrari E
Ital J Neurol Sci 1990 Jun;11(3):275-80. doi: 10.1007/BF02333858. PMID: 2387698

Recent clinical studies

Etiology

Dattani A, Heggie A
Int J Oral Maxillofac Surg 2021 Mar;50(3):341-348. Epub 2020 Jul 1 doi: 10.1016/j.ijom.2020.05.008. PMID: 32622511
Hivelin M, Wolkenstein P, Lepage C, Valeyrie-Allanore L, Meningaud JP, Lantieri L
Plast Reconstr Surg 2010 Apr;125(4):1197-1207. doi: 10.1097/PRS.0b013e3181d180e9. PMID: 20335870
Overdiek A, Feifel H, Schaper J, Mayatepek E, Rosenbaum T
Brain Dev 2006 Jun;28(5):275-80. Epub 2006 Feb 14 doi: 10.1016/j.braindev.2005.10.001. PMID: 16481142
Becktor KB, Becktor JP, Karnes PS, Keller EE
Cleft Palate Craniofac J 2002 Mar;39(2):233-45. doi: 10.1597/1545-1569_2002_039_0233_cadmop_2.0.co_2. PMID: 11879083
Czarnecki ES, Carrel R
J Pedod 1982 Spring;6(3):270-80. PMID: 6964595

Diagnosis

Balaji SM, Balaji P
Indian J Dent Res 2022 Jul-Sep;33(3):344-347. doi: 10.4103/ijdr.ijdr_688_22. PMID: 36656200
Dattani A, Heggie A
Int J Oral Maxillofac Surg 2021 Mar;50(3):341-348. Epub 2020 Jul 1 doi: 10.1016/j.ijom.2020.05.008. PMID: 32622511
Ratra D, Yadav H, Dalan D, Sodhi PKS, Ratra V
Indian J Ophthalmol 2019 Jul;67(7):1223-1226. doi: 10.4103/ijo.IJO_1840_18. PMID: 31238475Free PMC Article
AlZamel G, Odell S, Mupparapu M
Dent Clin North Am 2016 Jan;60(1):39-90. doi: 10.1016/j.cden.2015.08.002. PMID: 26614949
Hu J, Li Q, Zhang B, Ma G, Zhao F, Li S, Zhou C, Li F, Zhou Y, Chen W, Cao Y
J Craniofac Surg 2011 Mar;22(2):727-30. doi: 10.1097/SCS.0b013e318207b570. PMID: 21415647

Therapy

Trapp LD, Lee C, Troutman KC, Simon JE
Anesth Prog 1981 Nov-Dec;28(6):162-6. PMID: 6211111Free PMC Article

Prognosis

Hivelin M, Wolkenstein P, Lepage C, Valeyrie-Allanore L, Meningaud JP, Lantieri L
Plast Reconstr Surg 2010 Apr;125(4):1197-1207. doi: 10.1097/PRS.0b013e3181d180e9. PMID: 20335870
Becktor KB, Becktor JP, Karnes PS, Keller EE
Cleft Palate Craniofac J 2002 Mar;39(2):233-45. doi: 10.1597/1545-1569_2002_039_0233_cadmop_2.0.co_2. PMID: 11879083
Czarnecki ES, Carrel R
J Pedod 1982 Spring;6(3):270-80. PMID: 6964595
Bergman JA
Arch Otolaryngol 1973 Jun;97(6):490-4. doi: 10.1001/archotol.1973.00780010504015. PMID: 4704449

Clinical prediction guides

Capra V, Severino M, Rossi A, Nozza P, Doneda C, Perri K, Pavanello M, Fiorio P, Gimelli G, Tassano E, Di Battista E
Am J Med Genet A 2014 Feb;164A(2):495-9. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36283. PMID: 24311370
Hivelin M, Wolkenstein P, Lepage C, Valeyrie-Allanore L, Meningaud JP, Lantieri L
Plast Reconstr Surg 2010 Apr;125(4):1197-1207. doi: 10.1097/PRS.0b013e3181d180e9. PMID: 20335870

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