HFA
MCID: HMF008
MIFTS: 39

Hemifacial Atrophy, Progressive (HFA)

Categories: Eye diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemifacial Atrophy, Progressive

MalaCards integrated aliases for Hemifacial Atrophy, Progressive:

Name: Hemifacial Atrophy, Progressive 56 52 37
Parry-Romberg Syndrome 56 74 52 53 58
Progressive Hemifacial Atrophy 52 53 58
Progressive Facial Hemiatrophy 58
Romberg Hemi-Facial Atrophy 52
Facial Hemiatrophy 71
Hemifacial Atrophy 58
Romberg Syndrome 58
Hfa 56
Pha 58

Characteristics:

Orphanet epidemiological data:

58
progressive hemifacial atrophy
Inheritance: Not applicable; Prevalence: 1-9/1000000 (United States); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
majority of cases are sporadic
onset in childhood or early adulthood
left sided involvement occurs more frequently

Inheritance:
isolated cases


HPO:

31
hemifacial atrophy, progressive:
Inheritance sporadic
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Hemifacial Atrophy, Progressive

NINDS : 53 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 based summary : Hemifacial Atrophy, Progressive, also known as parry-romberg syndrome, is related to facial hemiatrophy and pelger-huet anomaly, and has symptoms including ataxia and oral manifestations. Affiliated tissues include Adipose, and related phenotypes are micrognathia and facial asymmetry

NIH Rare Diseases : 52 Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome , is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face. It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg. The condition may worsen for 2 to 20 years and then stabilize. It usually begins around age 10 but can begin as early as infancy or as late as mid-adulthood. The severity varies greatly. While the cause is not well understood, it may differ among affected people. PHA is often associated with a type of linear scleroderma called "en coupe de sabre" (ECDS), and many researchers believe that PHA is also a form of linear scleroderma. Therefore, treatment for PHA often includes medications used to treat other forms of linear scleroderma. After progressive hemifacial atrophy has stopped progressing, reconstructive surgery may be used to restore the natural shape of the face and eye.

Wikipedia : 74 Parry-Romberg syndrome (PRS) is a rare disease characterized by progressive shrinkage and degeneration... more...

More information from OMIM: 141300

Related Diseases for Hemifacial Atrophy, Progressive

Diseases related to Hemifacial Atrophy, Progressive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 389)
# Related Disease Score Top Affiliating Genes
1 facial hemiatrophy 12.5
2 pelger-huet anomaly 12.2
3 pseudohypoaldosteronism, type i, autosomal dominant 12.0
4 heterochromia iridis 11.6
5 pseudohypoaldosteronism, type i, autosomal recessive 11.5
6 pseudohypoaldosteronism 11.5
7 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.2
8 pelger-huet anomaly with mild skeletal anomalies 11.2
9 systemic scleroderma 11.0
10 localized scleroderma 10.9
11 linear scleroderma 10.9
12 enophthalmos 10.9
13 migraine with or without aura 1 10.8
14 trigeminal neuralgia 10.7
15 vasculitis 10.7
16 encephalitis 10.7
17 ptosis 10.6
18 retinal vasculitis 10.6
19 uveitis 10.6
20 focal epilepsy 10.6
21 strabismus 10.5
22 neuroretinitis 10.5
23 visual epilepsy 10.5
24 keratopathy 10.5
25 mechanical strabismus 10.5
26 aneurysm 10.5
27 headache 10.5
28 seizure disorder 10.5
29 heart disease 10.5
30 congestive heart failure 10.5
31 dowling-degos disease 1 10.5
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
33 optic papillitis 10.5
34 intracranial aneurysm 10.5
35 alopecia 10.5
36 cerebral atrophy 10.5
37 autoimmune disease 10.4
38 external auditory canal, bilateral atresia of, with congenital vertical talus 10.4
39 torticollis 10.4
40 vitiligo-associated multiple autoimmune disease susceptibility 6 10.4
41 corneal dystrophy, band-shaped 10.4
42 branchiootic syndrome 1 10.4
43 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
44 intraocular pressure quantitative trait locus 10.4
45 hydrops, lactic acidosis, and sideroblastic anemia 10.4
46 suppression amblyopia 10.4
47 amblyopia 10.4
48 lyme disease 10.4
49 panuveitis 10.4
50 telangiectasis 10.4

Graphical network of the top 20 diseases related to Hemifacial Atrophy, Progressive:



Diseases related to Hemifacial Atrophy, Progressive

Symptoms & Phenotypes for Hemifacial Atrophy, Progressive

Human phenotypes related to Hemifacial Atrophy, Progressive:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
2 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
3 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
4 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
5 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
6 abnormality of the musculature 58 31 frequent (33%) Frequent (79-30%) HP:0003011
7 asymmetric growth 58 31 frequent (33%) Frequent (79-30%) HP:0100555
8 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
9 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
10 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
11 ataxia 31 HP:0001251
12 kyphosis 31 HP:0002808
13 dental malocclusion 31 HP:0000689
14 microtia 31 HP:0008551
15 delayed eruption of teeth 31 HP:0000684
16 migraine 31 HP:0002076
17 blepharophimosis 31 HP:0000581
18 abnormality of the mandible 58 Very frequent (99-80%)
19 trigeminal neuralgia 31 HP:0100661
20 horner syndrome 31 HP:0002277
21 alopecia areata 31 HP:0002229
22 short mandibular rami 31 HP:0003778
23 tongue atrophy 31 HP:0012473
24 hemifacial atrophy 31 HP:0011331
25 poliosis 31 HP:0002290

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis
blepharophimosis
blepharoptosis
enophthalmos
loss of periorbital fat
more
Skin Nails Hair Hair:
poliosis
circumscribed alopecia

Head And Neck Face:
wasting of one side of face

Head And Neck Mouth:
lip atrophy (involved side)
tongue atrophy (involved side)

Muscle Soft Tissue:
facial muscle atrophy of involved side

Neurologic Central Nervous System:
ataxia
migraine
trigeminal neuralgia
horner syndrome
seizure (jacksonian)

Head And Neck Teeth:
malocclusion
delayed teeth eruption on ipsilateral side

Head And Neck Ears:
misshapen, small ear

Skeletal Skull:
basilar kyphosis
short body and ramus of mandible

Clinical features from OMIM:

141300

UMLS symptoms related to Hemifacial Atrophy, Progressive:


ataxia, oral manifestations

Drugs & Therapeutics for Hemifacial Atrophy, Progressive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
2 Preliminary Investigation of the Effect of Human Adipose Tissue-derived Mesenchymal Stem Cell in Progressive Hemifacial Atrophy(Romberg's Disease) Completed NCT01309061

Search NIH Clinical Center for Hemifacial Atrophy, Progressive

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hemifacial Atrophy, Progressive cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hemifacial Atrophy, Progressive:
RNL-Astrostem, adipose-derived mesenchymal stem cells for treatment of Romberg's disease
Embryonic/Adult Cultured Cells Related to Hemifacial Atrophy, Progressive:
Adipose-derived mesenchymal stem cells PMIDs: 21303266 24341080

Genetic Tests for Hemifacial Atrophy, Progressive

Anatomical Context for Hemifacial Atrophy, Progressive

MalaCards organs/tissues related to Hemifacial Atrophy, Progressive:

40
Skin, Eye, Bone, Tongue, T Cells, Retina, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hemifacial Atrophy, Progressive:
# Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells
2 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Hemifacial Atrophy, Progressive

Articles related to Hemifacial Atrophy, Progressive:

(show top 50) (show all 362)
# Title Authors PMID Year
1
Parry Romberg syndrome and linear scleroderma en coup de sabre mimicking Rasmussen encephalitis. 61 56
18071151 2007
2
Parry Romberg syndrome and linear scleroderma in coup de sabre mimicking Rasmussen encephalitis. 61 56
17438222 2007
3
Rasmussen encephalitis associated with Parry-Romberg syndrome. 61 56
12913207 2003
4
Some observations on the aetiology of progressive hemifacial atrophy ("Parry-Romberg syndrome") 61 56
8410030 1993
5
Progressive hemifacial atrophy with scleroderma and ipsilateral limb wasting (Parry-Romberg syndrome). 61 56
6737396 1984
6
Progressive hemifacial atrophy (Parry-Romberg syndrome) report with review of genetics and nosology. 61 56
6601461 1983
7
Parry-Romberg syndrome vasculopathy and its treatment with botulinum toxin. 61 52
23719195 2014
8
Familial Parry-Romberg disease. 56
15850693 2005
9
Parry-Romberg syndrome: a global survey of 205 patients using the Internet. 61 52
12963760 2003
10
Progressive facial hemiatrophy and epilepsy: a common underlying dysgenetic mechanism. 56
9109892 1997
11
Localized scleroderma and hemiatrophy in association with antibodies to double-stranded DNA. 56
1589383 1992
12
[Heredo-degenerating factor in progressive facial hemiatrophy (Romberg); study of ocular complications of this syndrome]. 56
12981240 1952
13
Parry-Romberg syndrome treated with injectable poly-L-lactic acid and hyaluronic acid filler: a case report. 61
32009255 2020
14
A case of overlapping adult-onset linear scleroderma and Parry-Romberg syndrome presenting with widespread ipsilateral neurogenic involvement. 61
31775183 2020
15
Upper Lip Fat Grafting Using the Anatomical Subunit and Fat Compartment Principles Improves Lip Cant and Symmetry in Patients With Unilateral Upper Lip Asymmetries. 61
31688118 2020
16
Challenging Traditional Thinking: Early Free Tissue Transfer for Active Hemifacial Atrophy in Children. 61
31985645 2020
17
Comprehensive Three-Dimensional Technology Strategies for Autologous Free Fat Graft in Parry-Romberg Syndrome. 61
31469732 2020
18
Comprehensive Three-Dimensional Technology Strategies for Autologous Free Fat Graft in Parry-Romberg Syndrome. 61
31934981 2020
19
Parry-Romberg syndrome in an adolescent: a case report on progressive hemifacial atrophy. 61
32038874 2020
20
Parry-Romberg Syndrome With Hemimasticatory Spasm: A Rare Combination. 61
31977713 2020
21
Acquired monocular elevation deficit in a case of Parry-Romberg syndrome. 61
31621456 2019
22
Anti-GAD epileptic encephalopathy in a toddler with Parry-Romberg syndrome. 61
31828676 2019
23
Isolated Fat Grafting for Reconstruction of Lower Face Volumetric Asymmetry in Skeletally Immature Patients: A Clinical Outcome Study. 61
31232814 2019
24
Multimodal Imaging of Parry Romberg Syndrome-associated Panuveitis: A Case Report and Review of Literature. 61
31577463 2019
25
Parry Romberg Syndrome. 61
31741927 2019
26
Multi-vessel coronary artery aneurysms in a patient with Parry Romberg syndrome: a case report. 61
31660479 2019
27
The development of multiple ocular complications in a patient with Parry-Romberg syndrome. 61
30467888 2019
28
Parry-Romberg syndrome in Kuwait. Neurological manifestations in 2 children. 61
31287134 2019
29
Autologous fat transfer for facial recontouring in Parry-Romberg syndrome. 61
31301095 2019
30
Parry Romberg Syndrome: A Unique Clinico-radiological Entity. 61
31512642 2019
31
Parry Romberg Syndrome: Literature Review and Report of Three Cases. 61
30996540 2019
32
Craniofacial bone atrophy in Parry Romberg syndrome demonstrated using a Bayesian hierarchical model. 61
31030853 2019
33
Paranasal Fat Grafting Improves the Nasal Symmetry in Patients With Parry-Romberg Syndrome. 61
30839470 2019
34
Retinal Vasculitis With Coats-Like Response in a Young Girl With Parry-Romberg Syndrome. 61
31124919 2019
35
Parry-Romberg syndrome associated with en coup de sabre in a patient from South Sudan - a rare entity from East Africa: a case report. 61
31046814 2019
36
Viral encephalitis in Parry-Romberg syndrome. 61
31064793 2019
37
Retinal vasculitis the first clue in the diagnosis of progressive hemifacial atrophy. 61
31329538 2019
38
Parry Romberg Syndrome. 61
30851754 2019
39
Parry-Romberg syndrome and morphoea en coup de sabre. 61
29572218 2019
40
A case of bilateral Parry-Romberg syndrome successfully treated with hyaluronic acid filler augmentation. 61
30985058 2019
41
Botulinum toxin A for pain reduction in pediatric patients with Parry-Romberg syndrome. 61
30739340 2019
42
Adult-onset bilateral Parry-Romberg syndrome. 61
30809561 2019
43
Complementary Fat Graft Retention Rates Are Superior to Initial Rates in Craniofacial Contour Reconstruction. 61
30817656 2019
44
Facial Contour Symmetry Outcomes after Site-Specific Facial Fat Compartment Augmentation with Fat Grafting in Facial Deformities. 61
30688900 2019
45
Parry-Romberg syndrome treatment with fat transfer and a new bleaching formula. 61
30770631 2019
46
Treatment of Parry-Romberg syndrome using a free flap under the SMAS - Preliminary report of a first case. 61
30509689 2019
47
A queer case of Parry-Romberg syndrome with coexisting psychiatric ailment. 61
30745662 2019
48
Parry-Romberg Syndrome with Uhthoff's Phenomena: A Spectrum of Autoimmune Disease? 61
31139478 2019
49
En coup de sabre. 61
30758333 2019
50
Clinico-radiological approach to cerebral hemiatrophy. 61
30083798 2018

Variations for Hemifacial Atrophy, Progressive

Expression for Hemifacial Atrophy, Progressive

Search GEO for disease gene expression data for Hemifacial Atrophy, Progressive.

Pathways for Hemifacial Atrophy, Progressive

GO Terms for Hemifacial Atrophy, Progressive

Sources for Hemifacial Atrophy, Progressive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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