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Hypoplasia of facial musculature

MedGen UID:
320257
Concept ID:
C1834042
Finding
Synonyms: Atrophy of facial musculature; Decreased size of facial muscles; Deficiency of facial musculature; Hypotrophic facial musculature; Small facial muscles; Underdevelopment of facial muscles
 
HPO: HP:0004660

Definition

Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of facial musculature

Conditions with this feature

Craniofacial microsomia 1
MedGen UID:
501171
Concept ID:
C3495417
Congenital Abnormality
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.

Professional guidelines

PubMed

Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556
Anderson PJ, Barker JH, David DJ
World J Orthod 2005 Summer;6(2):156-60. PMID: 15952552
Talmant JC
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Recent clinical studies

Etiology

Alzhrani F, Halawani R, Basodan S, Hudeib R
Laryngoscope 2021 Feb;131(2):374-379. Epub 2020 Mar 28 doi: 10.1002/lary.28632. PMID: 32222081
Kim J, Park J, Uhm KI, Shin D, Choi H
J Craniofac Surg 2017 Oct;28(7):1661-1663. doi: 10.1097/SCS.0000000000003719. PMID: 28806380
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556
Buonocore S, Broer PN, Walker ME, da Silva Freitas R, Franco D, Alonso N
Ann Plast Surg 2014 Mar;72(3):363-8. doi: 10.1097/SAP.0b013e31826aefdf. PMID: 23657042
Chen KT, Noordholff SM
Changgeng Yi Xue Za Zhi 1994 Sep;17(3):239-47. PMID: 7954003

Diagnosis

Altuame FD, Haldeman-Englert C, Cupler E, Al Muhaizea MA, Al-Zaidan HI, Hashem M, Alkuraya FS
Am J Med Genet A 2021 Feb;185(2):370-376. Epub 2020 Nov 11 doi: 10.1002/ajmg.a.61957. PMID: 33179433
Xue Y, Magoulas PL, Wirthlin JO, Buchanan EP
J Craniofac Surg 2017 May;28(3):e258-e260. doi: 10.1097/SCS.0000000000003483. PMID: 28468212
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556
Oostvogels M, Meijer-Jorna LB, van der Wal AC, Oduber CE, Lapid O, van der Horst CM
Ann Plast Surg 2014 Mar;72(3):351-4. doi: 10.1097/SAP.0b013e31826053e9. PMID: 24051471
Samango-Sprouse C
Pediatr Endocrinol Rev 2010 Dec;8 Suppl 1:160-8. PMID: 21217608

Therapy

Alzhrani F, Halawani R, Basodan S, Hudeib R
Laryngoscope 2021 Feb;131(2):374-379. Epub 2020 Mar 28 doi: 10.1002/lary.28632. PMID: 32222081
Samango-Sprouse C
Pediatr Endocrinol Rev 2010 Dec;8 Suppl 1:160-8. PMID: 21217608
Karabiber H, Aslan M, Alkan A, Yakinci C
Brain Dev 2004 Jun;26(4):269-72. doi: 10.1016/S0387-7604(03)00171-2. PMID: 15130694
Desiato MT, Bernardi G, Hagi H A, Boffa L, Caramia MD
Clin Neurophysiol 2002 Jan;113(1):132-40. doi: 10.1016/s1388-2457(01)00724-6. PMID: 11801435
Bennun RD, Perandones C, Sepliarsky VA, Chantiri SN, Aguirre MI, Dogliotti PL
Plast Reconstr Surg 1999 Sep;104(3):616-30. doi: 10.1097/00006534-199909030-00002. PMID: 10456510

Prognosis

Altuame FD, Haldeman-Englert C, Cupler E, Al Muhaizea MA, Al-Zaidan HI, Hashem M, Alkuraya FS
Am J Med Genet A 2021 Feb;185(2):370-376. Epub 2020 Nov 11 doi: 10.1002/ajmg.a.61957. PMID: 33179433
Mermerkaya M, Süer E, Öztürk E, Gülpınar Ö, Gökçe Mİ, Yalçındağ FN, Soygür T, Burgu B
Eur J Pediatr 2014 May;173(5):661-5. Epub 2013 Nov 19 doi: 10.1007/s00431-013-2172-7. PMID: 24248520
Buonocore S, Broer PN, Walker ME, da Silva Freitas R, Franco D, Alonso N
Ann Plast Surg 2014 Mar;72(3):363-8. doi: 10.1097/SAP.0b013e31826aefdf. PMID: 23657042
Tippett HL, Dodgson LK, Hunt NP, Lewis MP
Eur J Orthod 2008 Apr;30(2):217-25. Epub 2008 Feb 8 doi: 10.1093/ejo/cjm105. PMID: 18263891
Wessberg GA, Washburn MC, Epker BN, Dana KO
J Prosthet Dent 1982 Oct;48(4):451-60. doi: 10.1016/0022-3913(82)90085-3. PMID: 6957600

Clinical prediction guides

Altuame FD, Haldeman-Englert C, Cupler E, Al Muhaizea MA, Al-Zaidan HI, Hashem M, Alkuraya FS
Am J Med Genet A 2021 Feb;185(2):370-376. Epub 2020 Nov 11 doi: 10.1002/ajmg.a.61957. PMID: 33179433
Alzhrani F, Halawani R, Basodan S, Hudeib R
Laryngoscope 2021 Feb;131(2):374-379. Epub 2020 Mar 28 doi: 10.1002/lary.28632. PMID: 32222081
Inman KE, Purcell P, Kume T, Trainor PA
PLoS Genet 2013;9(12):e1003949. Epub 2013 Dec 19 doi: 10.1371/journal.pgen.1003949. PMID: 24385915Free PMC Article
Samango-Sprouse C
Pediatr Endocrinol Rev 2010 Dec;8 Suppl 1:160-8. PMID: 21217608
Precious DS, Delaire J
Oral Surg Oral Med Oral Pathol 1993 Feb;75(2):141-51. doi: 10.1016/0030-4220(93)90084-h. PMID: 8426712

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