Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Synonyms: Retinal dystrophy-juvenile cataract-short stature syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | Retinal dystrophy-juvenile cataract-short stature syndrome |
| fr | Syndrome de rétinite pigmentaire-cataracte juvénile-petite taille-déficience intellectuelle | Syndrome de dystrophie rétinienne-cataracte juvénile-petite taille |
| de | Retinitis pigmentosa-juvenile Katarakt-Kleinwuchs-Intelligenzminderung Syndrom | Netzhautdystrophie-juvenile Katarakt-Kleinwuchs-Syndrom |
| es | Síndrome de retinosis pigmentaria-catarata juvenil-talla baja-discapacidad intelectual | Síndrome de distrofia retiniana-catarata juvenil-talla baja |
| it | Sindrome retinite pigmentosa-cataratta giovanile-bassa statura-disabilità intellettiva | Sindrome distrofia retinica-cataratta giovanile-bassa statura |
| nl | Retinitis pigmentosa - juveniel cataract - kleine gestalte - intellectuele achterstand-syndroom | Retinale dystrofie - juveniel cataract - kleine gestalte-syndroom |
| pt | Síndrome de retinite pigmentosa-catarata juvenil-baixa estatura-perturbação do desenvolvimento intelectual | Síndrome de distrofia da retina-cataracta juvenil-baixa estatura |
| pl | Zespół barwnikowego zwyrodnienia siatkówki, zaćmy młodzieńczej, niskiego wzrostu i niepełnosprawności intelektualnej | Zespół dystrofii siatkówki, zaćmy młodzieńczej i niskiego wzrostu |
| cs | Syndrom zahrnující retinitis pigmentosa, juvenilní kataraktu, malý vzrůst a mentální retardaci | Syndrom zahrnující retinální dystrofii, juvenilní kataraktu a malý vzrůst |
| uk | Синдром пігментної дегенерації сітківки-ювенільної катаракти-низькорослості-інтелектуальної недостатності | Синдром дистрофії сітківки - ювенільної катаракти - низького зросту |
| zh | 色素性视网膜炎-青少年白内障-身材矮小-智力障碍综合征 | 视网膜营养不良-青少年白内障-矮小综合征 |
| tr | Retinitis pigmentosa-jüvenil katarakt-kısa boy-zihinsel yetersizlik sendromu | Retina distrofi-jüvenil katarakt-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616108 | E | validated | |
| ICD-10 | Q87.8 | BTNT | attributed | validated |
| ICD-11 | LD21.Y | NTBT | attributed | validated |
| MONDO | 0014495 | E | validated | |
| UMLS | C4015242 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RDH11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17964 | ENSG00000072042 | 607849 | 14q24.1 | retinol dehydrogenase 11 | 24916380[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24916380[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24916380[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
27 annotations · validated 2019-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001118 | Juvenile cataract | |
| HP:0007675 | Progressive night blindness | |
| HP:0000529 | Progressive visual loss | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0004322 | Short stature | |
| HP:0000430 | Underdeveloped nasal alae | |
| Frequent (79-30%) | ||
| HP:0009907 | Attached earlobe | |
| HP:0001156 | Brachydactyly | |
| HP:0010761 | Broad columella | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0000689 | Dental malocclusion | |
| HP:0000699 | Diastema | |
| HP:0002311 | Incoordination | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0007791 | Patchy atrophy of the retinal pigment epithelium | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0000470 | Short neck | |
| HP:0001328 | Specific learning disability | |
| HP:0007965 | Undetectable visual evoked potentials | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000400 | Macrotia | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 10420199[PMID]_24916380[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436245
- This record as JSON: /data/d/436245.json