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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.
See: This record
Not genetically inherited (Orphanet)
 
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Facial asymmetry
MedGen UID:
266298
•Concept ID:
C1306710
•
Finding
An abnormal difference between the left and right sides of the face.
See: Feature record | Search on this feature
Show allHide all

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.
See: Condition Record
Hemifacial myohyperplasia
MedGen UID:
339781
•Concept ID:
C1847521
•
Congenital Abnormality
Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles (summary by Bayard et al., 2023).
See: Condition Record
Bencze syndrome
Hemifacial myohyperplasia

Professional guidelines

PubMed

Botulinum A toxin treatment for eyelid spasm, spasmodic torticollis and apraxia of eyelid opening.
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

Clinical, imaging, and pathological characteristics of congenital infiltrating lipomatosis of the face.
Xu GS, Du Z, Yang GX, You YH, Tian ZW, Wang YA
Int J Oral Maxillofac Surg 2024 Aug;53(8):661-671. Epub 2024 Feb 22 doi: 10.1016/j.ijom.2024.02.001. PMID: 38395686
Hemifacial hyperplasia: a case series and review of the literature.
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
Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas.
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
Craniofacial and dental manifestations of Proteus syndrome: a case report.
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
Hemifacial hypertrophy.
Czarnecki ES, Carrel R
J Pedod 1982 Spring;6(3):270-80. PMID: 6964595

Diagnosis

Hemifacial hyperplasia: a case series and review of the literature.
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
Retinal vascular abnormalities in Sturge-Weber syndrome.
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
Developmental Disorders Affecting Jaws.
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
Isolated hemifacial hyperplasia.
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
Congenital hemifacial hypertrophy.
Loh HS
Br Dent J 1982 Aug 3;153(3):111-2. doi: 10.1038/sj.bdj.4804864. PMID: 6957209

Therapy

Anesthetic management of the pediatric patient with multiple congenital anomalies including severe hemifacial hypertrophy.
Trapp LD, Lee C, Troutman KC, Simon JE
Anesth Prog 1981 Nov-Dec;28(6):162-6. PMID: 6211111Free PMC Article

Prognosis

Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients.
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
Craniofacial and dental manifestations of Proteus syndrome: a case report.
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
Hemifacial hypertrophy.
Czarnecki ES, Carrel R
J Pedod 1982 Spring;6(3):270-80. PMID: 6964595
Primary hemifacial hypertrophy. Review and report of a case.
Bergman JA
Arch Otolaryngol 1973 Jun;97(6):490-4. doi: 10.1001/archotol.1973.00780010504015. PMID: 4704449

Clinical prediction guides

Clinical, imaging, and pathological characteristics of congenital infiltrating lipomatosis of the face.
Xu GS, Du Z, Yang GX, You YH, Tian ZW, Wang YA
Int J Oral Maxillofac Surg 2024 Aug;53(8):661-671. Epub 2024 Feb 22 doi: 10.1016/j.ijom.2024.02.001. PMID: 38395686
Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.
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
Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients.
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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