ORPHA:166035
Brachydactyly-short stature-retinitis pigmentosa syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly-short stature-retinitis pigmentosa syndrome | |
| fr | Syndrome de brachydactylie-petite taille-rétinite pigmentaire | |
| de | Brachydaktylie-Kleinwuchs-Retinitis pigmentosa-Syndrom | |
| es | Síndrome de braquidactilia-talla baja-retinosis pigmentaria | |
| it | Sindrome da brachidattilia, bassa statura, retinite pigmentosa | |
| nl | Brachydactylie - kleine gestalte - retinitis pigmentosa-syndroom | |
| pt | Síndrome de braquidactilia-baixa estatura-retinite pigmentosa | |
| pl | Zespół brachydaktylii, niskiego wzrostu i barwnikowego zwyrodnienia siatkówki | |
| cs | Metafyzární chondrodysplázie s retinitis pigmentosa | |
| uk | Синдром брахідактилії - низькорослості-пігментної дегенерації сітківки | |
| zh | 短指-矮小-视网膜色素变性综合征 | |
| tr | Brakidaktili-kısa boy-retinitis pigmentosa sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250410 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD26.Y | NTBT | attributed | validated |
| MONDO | 0009598 | E | validated | |
| UMLS | C5190709 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CWC27 | Disease-causing germline mutation(s) in | Assessed | HGNC:10664 | ENSG00000153015 | 617170 | 5q12.3 | CWC27 spliceosome associated cyclophilin | 28285769[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 7252997[PMID]_28285769[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7252997[PMID]_28285769[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.
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HPO phenotypes
46 annotations · validated 2019-09-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001156 | Brachydactyly | |
| HP:0000546 | Retinal degeneration | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000662 | Nyctalopia | |
| HP:0000510 | Rod-cone dystrophy | |
| Occasional (29-5%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0005345 | Abnormal vena cava morphology | |
| HP:0030455 | Abnormality of pattern visual evoked potentials | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0001596 | Alopecia | |
| HP:0010761 | Broad columella | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0007099 | Chiari type I malformation | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002007 | Frontal bossing | |
| HP:0001822 | Hallux valgus | |
| HP:0030148 | Heart murmur | |
| HP:0000085 | Horseshoe kidney | |
| HP:0008064 | Ichthyosis | |
| HP:0000023 | Inguinal hernia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| HP:0000347 | Micrognathia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001763 | Pes planus | |
| HP:0000107 | Renal cyst | |
| HP:0010049 | Short metacarpal | |
| HP:0001792 | Small nail | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0001629 | Ventricular septal defect | |
| HP:0001123 | Visual field defect | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 7252997[PMID]_10420199[PMID]_28285769[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166035
- This record as JSON: /data/d/166035.json