Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Synonyms: Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome |
| fr | Syndrome de rétinite pigmentaire-surdité-vieillissement prématuré-petite taille-dysmorphie faciale | |
| de | Retinitis pigmentosa-Hörverlust-vorzeitige Alterung-Kleinwuchs-Gesichtsdysmorphie-Syndrom | Retinitis pigmentosa-Schwerhörigkeit-vorzeitige Alterung-Kleinwuchs-Gesichtsdysmorphie-Syndrom · Retinitis pigmentosa-Taubheit-Hypothyreose-vorzeitige Alterung-charakteristische Gesichtsform-Syndrom |
| es | Síndrome de retinosis pigmentaria-hipoacusia-envejecimiento prematuro-talla baja-dismorfia facial | Síndrome de retinosis pigmentaria-sordera-envejecimiento prematuro-talla baja-dismorfia facial |
| it | Sindrome retinite pigmentosa-sordità-invecchiamento precoce-bassa statura-dismorfismi facciali | |
| nl | Retinitis pigmentosa - gehoorverlies - hypothyreoïdie - vroegtijdige veroudering - faciale dysmorfie-syndroom | Retinitis pigmentosa - doofheid - hypothyreoïdie - vroegtijdige veroudering - faciale dysmorfie-syndroom · Retinitis pigmentosa - gehoorverlies - hypothyreoïdie - vroegtijdige veroudering - karakteristieke gelaatsvorm-syndroom |
| pt | Síndrome de retinite pigmentosa-perda auditiva-envelhecimento prematuro-baixa estatura-dismorfia facial | |
| pl | Zespół zwyrodnienia barwnikowego siatkówki, niedosłuchu, przedwczesnego starzenia, niskiego wzrostu i dysmorfii twarzy | = en |
| cs | Syndrom zahrnující pigmentovou degeneraci sítnice, ztrátu sluchu, hypotyreózu, předčasné stárnutí a faciální dysmorfismus | Syndrom zahrnující retinitis pigmentosa, hluchotu, hypotyreózu, předčasné stárnutí a faciální dysmorfismus · Syndrom zahrnující retinitis pigmentosa, ztrátu sluchu, hypotyreózu, předčasné stárnutí a typický fenotyp tváře |
| uk | Синдром пігментної дегенерації сітківки-втрати слуху-передчасного старіння-низькорослості- дисморфізму обличчя | Синдром пігментної дегенерації сітківки - глухоти - передчасного старіння - низького зросту - дисморфізму обличчя |
| zh | 色素性视网膜炎-听力障碍-早衰-身材矮小-面部畸形综合征 | 色素性视网膜炎-耳聋-早衰-身材矮小-面部畸形综合征 |
| tr | Retinitis pigmentosa-işitme kaybı-erken yaşlanma-kısa boy-fasyal dismorfizm sendromu | Retinitis pigmentosa-sağırlık-erken yaşlanma-kısa boy-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617763 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0044634 | E | validated | |
| UMLS | C5567466 | 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 (6):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EXOSC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17097 | ENSG00000130713 | 602238 | 9q34.12 | exosome component 2 | 26843489[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26843489[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26843489[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/494439
- This record as JSON: /data/d/494439.json