X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | |
| fr | Syndrome de déficience intellectuelle-retard de développement global-dysmorphie faciale-appendice caudal | |
| de | X-chromosomale Intelligenzminderung-globale Entwicklungsverzögerung-Gesichtsdysmorphie-sakraler kaudaler Überrest | |
| es | Síndrome de discapacidad intelectual-retraso global del desarrollo-dismorfia facial-remanente caudal del sacro ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva- ritardo dello sviluppo globale-dismorfismi facciali-appendice caudale sacrale legata all'X | |
| nl | X-gebonden intellectuele achterstand - algemene ontwikkelingsachterstand - faciale dysmorfie - sacraal caudaal restant-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-atraso do desenvolvimento global-dismorfia facial-remanescente caudal sagrado ligada ao X | |
| pl | Zespół niepełnosprawności intelektualnej sprzężonej z chromosomem X, opóźnienia w rozwoju, dysmorfii twarzy i szczątkowej kości krzyżowo-ogonowej? | |
| cs | Syndrom X-vázané intelektové nedostatečnosti, celkového vývojového opoždění, faciálního dysmorfismu a kaudální regrese | |
| uk | Х-зчеплений синдром розумової відсталості-глобальної затримки розвитку-дизморфізму обличчя-сакральнокаудального залишку | |
| zh | X连锁-智力障碍-全面发育迟缓-面部畸形-尾椎存在综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-yaygın gelişme gecikmesi-fasiyal dismorfizm-sakral kaudal kalıntı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300966 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0018823 | E | validated | |
| MONDO | 10500 | E | validated | |
| MONDO | 18823 | E | validated | |
| UMLS | C4225418 | 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 |
|---|---|---|---|---|---|---|---|---|
| TAF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11535 | ENSG00000147133 | 313650 | Xq13.1 | TATA-box binding protein associated factor 1 | 26637982[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 26637982[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26637982[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
45 annotations · validated 2019-09-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0008468 | Abnormal sacral segmentation | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0008472 | Prominent protruding coccyx | |
| HP:0000411 | Protruding ear | |
| HP:0006863 | Severe expressive language delay | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000729 | Autistic behavior | |
| HP:0000389 | Chronic otitis media | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001382 | Joint hypermobility | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0000307 | Pointed chin | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000455 | Broad nasal tip | |
| HP:0000414 | Bulbous nose | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001332 | Dystonia | |
| HP:0000286 | Epicanthus | |
| HP:0012032 | Lipoma | |
| HP:0000527 | Long eyelashes | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001513 | Obesity | |
| HP:0001250 | Seizure | |
| HP:0001264 | Spastic diplegia | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001337 | Tremor | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30805980[PMID]_26637982[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480907
- This record as JSON: /data/d/480907.json