FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a <i> FLBN1 </i> gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | |
| fr | Syndrome de retard de développement-anomalie du système nerveux central-syndactylie dû à des mutations de FBLN1 | |
| de | FBLN1-abhängiges Entwicklungsverzögerung-ZNS-Anomalien-Syndaktylie-Syndrom | |
| es | Síndrome de retraso del desarrollo asociado a FBLN1-anomalía del sistema nervioso central-sindactilia | |
| it | Sindrome da ritardo dello sviluppo, anomalie del sistema nervoso centrale, sindattilia correlata a FBLN1 | |
| nl | FBLN1-gerelateerde ontwikkelingsachterstand - anomalie van centraal zenuwstelsel - syndactylie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento-anomalia do sistema nervoso central-sindactilia FBLN1-relacionada | |
| pl | Zespół opóźnienie rozwoju związane z FBLN1 - wady ośrodkowego układu nerwowego - syndaktylia | |
| cs | FBLN1-vázaný syndrom zahrnující opožděný vývoj, anomálie centrálního nervového systému a syndaktylii | |
| uk | Синдром FBLN1-повязана затримка розвитку-аномалії центральної нервової системи-синдактилії | |
| zh | FBLN1相关的发育迟缓-中枢神经系统异常-并指（趾）综合征 | |
| tr | FBLN1-ilişkili gelişme geriliği-merkezi sinir sistemi anomalisi-sindaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018443 | E | validated | |
| UMLS | C4751506 | 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 (2):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBLN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3600 | ENSG00000077942 | 135820 | 22q13.31 | fibulin 1 | 24084572[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24084572[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24084572[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
18 annotations · validated 2019-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0011506 | Choroidal neovascularization | |
| HP:0008780 | Congenital bilateral hip dislocation | |
| HP:0000028 | Cryptorchidism | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0012469 | Infantile spasms | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000608 | Macular degeneration | |
| HP:0001270 | Motor delay | |
| HP:0007030 | Nonprogressive encephalopathy | |
| HP:0002200 | Pseudobulbar signs | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0001159 | Syndactyly | |
| HP:0003396 | Syringomyelia | |
Annotation source: 24084572[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404451
- This record as JSON: /data/d/404451.json