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Facial hemiatrophy(HFA)

MedGen UID:
8761
Concept ID:
C0015458
Disease or Syndrome
Synonyms: Hemifacial atrophy; Parry-Romberg syndrome; Progressive hemifacial atrophy; Romberg hemi-facial atrophy
SNOMED CT: Hemifacial atrophy (95834000); Facial hemiatrophy (95834000); Facial trophoneurosis (95834000); Progressive hemifacial atrophy (718224004); Parry Romberg syndrome (718224004); Romberg syndrome (718224004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0011331
Monarch Initiative: MONDO:0007710
OMIM®: 141300
Orphanet: ORPHA1214

Definition

Unilateral atrophy of facial tissues, including muscles, bones and skin. [from HPO]

Clinical features

From HPO
Trigeminal neuralgia
MedGen UID:
21683
Concept ID:
C0040997
Disease or Syndrome
A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Horner syndrome
MedGen UID:
5616
Concept ID:
C0019937
Disease or Syndrome
An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Short mandibular rami
MedGen UID:
331097
Concept ID:
C1841648
Finding
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Facial hemiatrophy
MedGen UID:
8761
Concept ID:
C0015458
Disease or Syndrome
Unilateral atrophy of facial tissues, including muscles, bones and skin.
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.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Tongue atrophy
MedGen UID:
66828
Concept ID:
C0241423
Finding
Wasting of the tongue.
Poliosis
MedGen UID:
67449
Concept ID:
C0221262
Disease or Syndrome
Circumscribed depigmentation of the hair of the head or the eyelashes.
Patchy alopecia
MedGen UID:
350774
Concept ID:
C1862862
Finding
Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacial hemiatrophy
Follow this link to review classifications for Facial hemiatrophy in Orphanet.

Conditions with this feature

Facial hemiatrophy
MedGen UID:
8761
Concept ID:
C0015458
Disease or Syndrome
Unilateral atrophy of facial tissues, including muscles, bones and skin.

Professional guidelines

PubMed

Bielsa Marsol I
Actas Dermosifiliogr 2013 Oct;104(8):654-66. Epub 2013 Aug 13 doi: 10.1016/j.adengl.2012.10.012. PMID: 23948159
Thompson PD, Obeso JA, Delgado G, Gallego J, Marsden CD
J Neurol Neurosurg Psychiatry 1986 Jun;49(6):651-6. doi: 10.1136/jnnp.49.6.651. PMID: 3734821Free PMC Article

Recent clinical studies

Etiology

Li SC
Pediatr Clin North Am 2018 Aug;65(4):757-781. doi: 10.1016/j.pcl.2018.04.002. PMID: 30031497
Finch GD, Dawe CJ
J Pediatr Orthop 2003 Jan-Feb;23(1):99-101. PMID: 12499953
Jablonska S, Blaszczyk M
Adv Exp Med Biol 1999;455:85-92. doi: 10.1007/978-1-4615-4857-7_12. PMID: 10599327
Abele DC, Anders KH
J Am Acad Dermatol 1990 Sep;23(3 Pt 1):401-10. doi: 10.1016/0190-9622(90)70233-8. PMID: 2212138
Rees TD
Clin Plast Surg 1976 Oct;3(4):637-46. PMID: 788999

Diagnosis

Arif T, Fatima R, Sami M
Acta Dermatovenerol Alp Pannonica Adriat 2020 Dec;29(4):193-199. PMID: 33348939
Schultz KP, Dong E, Truong TA, Maricevich RS
Clin Plast Surg 2019 Apr;46(2):231-237. Epub 2019 Jan 9 doi: 10.1016/j.cps.2018.11.007. PMID: 30851754
Li SC
Pediatr Clin North Am 2018 Aug;65(4):757-781. doi: 10.1016/j.pcl.2018.04.002. PMID: 30031497
Finch GD, Dawe CJ
J Pediatr Orthop 2003 Jan-Feb;23(1):99-101. PMID: 12499953
Jablonska S, Blaszczyk M
Semin Cutan Med Surg 1998 Mar;17(1):65-76. doi: 10.1016/s1085-5629(98)80064-3. PMID: 9512109

Therapy

Chen GC, Chen MJ, Wei WB, Hao YB
J Craniofac Surg 2020 Mar/Apr;31(2):e205-e208. doi: 10.1097/SCS.0000000000006228. PMID: 31977713
Li SC
Pediatr Clin North Am 2018 Aug;65(4):757-781. doi: 10.1016/j.pcl.2018.04.002. PMID: 30031497
Aranegui B, Jiménez-Reyes J
Actas Dermosifiliogr (Engl Ed) 2018 May;109(4):312-322. Epub 2017 Dec 14 doi: 10.1016/j.ad.2017.06.021. PMID: 29248149
Bielsa Marsol I
Actas Dermosifiliogr 2013 Oct;104(8):654-66. Epub 2013 Aug 13 doi: 10.1016/j.adengl.2012.10.012. PMID: 23948159
Duffy DM
Adv Dermatol 1990;5:93-107; discussion 108-9. PMID: 2204381

Prognosis

Li SC
Pediatr Clin North Am 2018 Aug;65(4):757-781. doi: 10.1016/j.pcl.2018.04.002. PMID: 30031497
Aranegui B, Jiménez-Reyes J
Actas Dermosifiliogr (Engl Ed) 2018 May;109(4):312-322. Epub 2017 Dec 14 doi: 10.1016/j.ad.2017.06.021. PMID: 29248149
Tolkachjov SN, Patel NG, Tollefson MM
Orphanet J Rare Dis 2015 Apr 1;10:39. doi: 10.1186/s13023-015-0250-9. PMID: 25881068Free PMC Article
Wijemanne S, Jankovic J
Neurology 2007 Oct 16;69(16):1585-94. doi: 10.1212/01.wnl.0000277699.48155.39. PMID: 17938368
Finch GD, Dawe CJ
J Pediatr Orthop 2003 Jan-Feb;23(1):99-101. PMID: 12499953

Clinical prediction guides

Virdi A, Patrizi A, Cambiaghi S, Diociaiuti A, El Hachem M, Schena D, Bassi A, Bonamonte D, Brazzelli V, Belloni Fortina A, Pepe P, DI Lernia V, Neri I
Ital J Dermatol Venerol 2021 Aug;156(4):446-454. Epub 2020 Oct 16 doi: 10.23736/S2784-8671.20.06632-8. PMID: 33070566
Denadai R, Buzzo CL, Raposo-Amaral CA, Raposo-Amaral CE
Plast Reconstr Surg 2019 Feb;143(2):544-556. doi: 10.1097/PRS.0000000000005220. PMID: 30688900
De Somer L, Morren MA, Muller PC, Despontin K, Jansen K, Lagae L, Wouters C
Eur J Pediatr 2015 Sep;174(9):1247-54. Epub 2015 Apr 8 doi: 10.1007/s00431-015-2532-6. PMID: 25851111
Sommer A, Gambichler T, Bacharach-Buhles M, von Rothenburg T, Altmeyer P, Kreuter A
J Am Acad Dermatol 2006 Feb;54(2):227-33. doi: 10.1016/j.jaad.2005.10.020. PMID: 16443052
Duffy DM
Adv Dermatol 1990;5:93-107; discussion 108-9. PMID: 2204381

Recent systematic reviews

Foiadelli T, Rossi A, Trabatti C, Spreafico E, Santi V, Orsini A, Verrotti A, Savasta S
Cephalalgia 2022 Apr;42(4-5):409-425. Epub 2021 Sep 26 doi: 10.1177/03331024211043452. PMID: 34569314
Hixon AM, Christensen E, Hamilton R, Drees C
Epilepsy Behav 2021 Aug;121(Pt A):108068. Epub 2021 May 28 doi: 10.1016/j.yebeh.2021.108068. PMID: 34052630
Rodby KA, Kaptein YE, Roring J, Jacobs RJ, Kang V, Quinn KP, Antony AK
Cleft Palate Craniofac J 2016 May;53(3):339-50. Epub 2015 Aug 21 doi: 10.1597/14-232. PMID: 26295800
Agostini T, Spinelli G, Marino G, Perello R
J Craniofac Surg 2014 May;25(3):783-7. doi: 10.1097/SCS.0000000000000831. PMID: 24769615

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