Progressive hemifacial atrophy
Synonyms: Hemifacial atrophy · PHA · Parry-Romberg syndrome · Progressive facial hemiatrophy · Romberg syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive hemifacial atrophy | Hemifacial atrophy · PHA · Parry-Romberg syndrome · Progressive facial hemiatrophy · Romberg syndrome |
| fr | Atrophie hémifaciale progressive | Atrophie hémifaciale · Hémiatrophie faciale progressive · Syndrome de Parry-Romberg · Syndrome de Romberg |
| de | Hemiatrophia facialis progressiva | Parry-Romberg-Syndrom |
| es | Atrofia hemifacial progresiva | Síndrome de Parry-Romberg |
| it | Atrofia emifacciale progressiva | Sindrome di Parry Romberg |
| nl | Progressieve hemifaciale atrofie | Hemifaciale atrofie · PHA · Progressieve faciale hemiatrofie · Syndroom van Parry-Romberg · Syndroom van Romberg |
| pt | Atrofia hemifacial progressiva | Síndrome Parry-Romberg |
| pl | Postępujący zanik połowiczy twarzy | Zespół Parry'ego i Romberga |
| cs | Progresivní hemifaciální atrofie | Hemifaciální atrofie · PHA · Parryho-Rombergův syndrom · Progresivní hemiatrofie obličeje · Rombergův syndrom · Parry-Rombergův syndrom |
| uk | Прогресуюча геміфаціальна атрофія | Напівлицьова атрофія · Синдром Паррі-Ромберга · PHA · Прогресуюча геміатрофія обличчя · Синдром Ромберга |
| zh | 进行性半侧颜面萎缩 | 进行性半侧颜面萎缩 |
| tr | İlerleyici hemifasiyal atrofi | PHA · Romberg sendromu · Hemifasiyal atrofi · Parry-Romberg sendromu · ilerleyici fasiyal hemiatrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 141300 | E | validated | |
| ICD-10 | G51.8 | NTBT | index | validated |
| ICD-11 | EB61.Y | NTBT | index | validated |
| MONDO | 0007710 | E | validated | |
| MONDO | 7710 | E | validated | |
| UMLS | C0015458 | E | validated | |
| GARD | 7338 | E | validated | |
| MedDRA | 10073006 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:102005Brain inflammatory disease
rare neurological diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:166484Inflammatory and autoimmune disease with epilepsy
rare neurological diseases - ORPHA:324933Mixed autoinflammatory and autoimmune syndrome
rare systemic and rheumatological diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases - ORPHA:519329Rare disorder involving multiple structures of the eye
rare ophthalmic disorders - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.143 / 100 000 | United States | Value and class | Validated | 12963760[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000277 | Abnormality of the mandible | |
| HP:0000324 | Facial asymmetry | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0000347 | Micrognathia | |
| Frequent (79-30%) | ||
| HP:0003011 | Abnormality of the musculature | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0100555 | Asymmetric growth | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000490 | Deeply set eye | |
| HP:0001100 | Heterochromia iridis | |
| HP:0000508 | Ptosis | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1214
- This record as JSON: /data/d/1214.json