MCID: FCL003
MIFTS: 32

Facial Hemiatrophy malady

Neuronal diseases category

Summaries for Facial Hemiatrophy

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Sources:
45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia). The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase. Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye.

MalaCards: Facial Hemiatrophy, also known as parry-romberg syndrome, is related to encephalitis and rasmussen encephalitis. An important gene associated with Facial Hemiatrophy is COPS2 (COP9 signalosome subunit 2). Affiliated tissues include skin, bone and eye.

Wikipedia:66 Parry?Romberg syndrome (also known as progressive hemifacial atrophy) is a rare neurocutaneous syndrome... more...

Description from OMIM:48 141300

Aliases & Classifications for Facial Hemiatrophy

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9Disease Ontology, 45NINDS, 11DISEASES, 63UMLS, 59SNOMED-CT, 48OMIM, 41NCIt, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

facial hemiatrophy 9 11 63
parry-romberg syndrome 9
parry-romberg 45


External Ids:

Disease Ontology9 DOID:1757
OMIM48 141300
SNOMED-CT59 95834000, 29868009
NCIt41 C84703
MeSH36 D005150

Related Diseases for Facial Hemiatrophy

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Facial Hemiatrophy:



Diseases related to facial hemiatrophy

Symptoms for Facial Hemiatrophy

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48OMIM
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Clinical features from OMIM:

141300

Drugs & Therapeutics for Facial Hemiatrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Facial Hemiatrophy

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Anatomical Context for Facial Hemiatrophy

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34MalaCards
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MalaCards organs/tissues related to Facial Hemiatrophy:

34
Skin, Bone, Eye, Tongue, Retina, Brain, Heart, Breast

Animal Models for Facial Hemiatrophy or affiliated genes

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Publications for Facial Hemiatrophy

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53PubMed
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Articles related to Facial Hemiatrophy:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Pemphigoid gestationis in a female with progressive facial hemiatrophy: microchimerism as a speculative shared background is disputable. (22535610)
2012
2
Trigeminal neuropathic pain in a patient with progressive facial hemiatrophy (parry-romberg syndrome). (21747035)
2011
3
Three-dimensional imaging of progressive facial hemiatrophy (Parry-Romberg syndrome) with unusual conjunctival findings. (22232729)
2011
4
Progressive facial hemiatrophy revisited: a role for sympathetic dysfunction. (21911700)
2011
5
Superficial temporal fascial flap plus lipofilling for facial contour reconstruction in bilateral progressive facial hemiatrophy. (20333522)
2010
6
Teaching NeuroImages: progressive facial hemiatrophy (Parry-Romberg syndrome) with ipsilateral cerebral hemiatrophy. (20083791)
2010
7
Ellis-van Creveld syndrome with facial hemiatrophy. (20445298)
2010
8
Long-lasting follow-up favours a close relationship between progressive facial hemiatrophy and scleroderma en coup de sabre. (15987282)
2005
9
Progressive facial hemiatrophy: a complex disorder not only affecting the face. A report in a monozygotic male twin pair. (15918232)
2004
10
Facial hemiatrophy--a report of 5 cases. (15328992)
2003
11
Progressive facial hemiatrophy associated with an astrocytoma in the cerebellopontine region. (11381396)
2001
12
Linear scleroderma en Coup de Sabre. Relationship with progressive facial hemiatrophy (PFH). (10599329)
1999
13
Progressive facial hemiatrophy and epilepsy: a common underlying dysgenetic mechanism. (9109892)
1997
14
Clinical and radiologic findings in progressive facial hemiatrophy (Parry-Romberg syndrome). (9127045)
1997
15
Neurologic abnormalities in two patients with facial hemiatrophy and sclerosis coexisting with morphea. (9144696)
1997
16
Central sympathetic dysregulation and immunological abnormalities in a case of progressive facial hemiatrophy (Parry-Romberg disease). (8520214)
1995
17
Progressive facial hemiatrophy with multiple benign tumors and hamartomas. (8719745)
1995
18
MR of brain involvement in progressive facial hemiatrophy (Romberg disease): reconsideration of a syndrome. (8141046)
1994
19
Facial hemiatrophy. (1506105)
1992
20
Facial hemiatrophy. Report of two cases. (1880104)
1991
21
Progressive facial hemiatrophy (Parry-Romberg syndrome) and antibodies to Borrelia. (1918499)
1991
22
Surgical treatment of progressive facial hemiatrophy. (1696052)
1990
23
Duane's retraction syndrome with facial hemiatrophy (a case report). (2097359)
1990
24
Facial hemiatrophy (Parry-Romberg syndrome) and hypertrophic cardiomyopathy. (3182718)
1988
25
A case of facial hemiatrophy associated with linear scleroderma and homolateral masseter spasm. (3570725)
1987
26
An eleven year follow-up case of facial hemiatrophy treated by combined approaches of craniofacial and microvascular surgeries. (4046277)
1985
27
Progressive facial hemiatrophy (Parry-Romberg syndrome). (7319766)
1981
28
Progressive facial hemiatrophy. Report of a case associated with Ewing's sarcoma. (7435466)
1980
29
A free groin flap reconstruction in progressive facial hemiatrophy. (319849)
1977
30
Refractive change as the initial sign of progressive facial hemiatrophy. (1146951)
1975
31
Progressive facial hemiatrophy (a case report). (4500006)
1973
32
Progressive facial hemiatrophy evaluation of treatment in a case after nine years. (4926651)
1971
33
Facial hemiatrophy (Parry-Romberg syndrome). (5924586)
1966
34
Facial hemiatrophy. (5222736)
1965
35
OCULAR MANIFESTATIONS OF FACIAL HEMIATROPHY. (14064456)
1963
36
SCLERODERMIA AND FACIAL HEMIATROPHY. (14162093)
1963
37
Facial hemiatrophy. (13882215)
1962
38
Facial hemiatrophy. (Parry Romberg's syndrome). (14469126)
1961
39
Progressive facial hemiatrophy (Parry-Romberg's syndrome) with Adie's syndrome. (13463347)
1957
40
Progressive facial hemiatrophy. (14383951)
1955
41
An early case of facial hemiatrophy. (14891176)
1951
42
Facial hemiatrophy, sequel to the treatment of an extensive nevus flammeus (port-wine mark) with x-rays and radium. (15416628)
1950
43
Facial hemiatrophy. (20283699)
1947
44
Report of a case of progressive facial hemiatrophy with pathological changes and surgical treatment. (21000875)
1946
45
Progressive facial hemiatrophy, disseminated scleroderma and muscular cramps. (20989165)
1946
46
Facial hemiatrophy. (20277335)
1946
47
White Spot Sclerodermia with Facial Hemiatrophy. (19991902)
1939
48
The Association of Optic Neuritis, Facial Paralysis, and Facial Hemiatrophy. (16693016)
1934
49
Facial Hemiatrophy and Persistent Hiccough. (19985928)
1927
50
Case of Facial Hemiatrophy. (19984475)
1925

Variations for Facial Hemiatrophy

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Expression for genes affiliated with Facial Hemiatrophy

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Facial Hemiatrophy

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Pathways for genes affiliated with Facial Hemiatrophy

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Compounds for genes affiliated with Facial Hemiatrophy

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GO Terms for genes affiliated with Facial Hemiatrophy

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Products for genes affiliated with Facial Hemiatrophy

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  • Antibodies
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  • Lysates
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Sources for Facial Hemiatrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet