X-linked intellectual disability, Snyder type
Synonyms: Snyder-Robinson syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Snyder type | Snyder-Robinson syndrome |
| fr | Déficience intellectuelle liée à l'X type Snyder | Syndrome de Snyder-Robinson |
| de | Intelligenzminderung, X-chromosomale, Typ Snyder | Snyder-Robinson-Syndrom |
| es | Discapacidad intelectual ligada al cromosoma X tipo Snyder | Síndrome de Snyder-Robinson |
| it | Disabilità intellettiva legata all'X, tipo Snyder | Sindrome di Snyder-Robinson |
| nl | X-gebonden intellectuele achterstand, Snyder-type | Syndroom van Snyder-Robinson |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Snyder | Síndrome Snyder-Robinson |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X typu Snydera | Zespół Snydera i Robinsona |
| cs | X-vázaná mentální retardace, Snyderův typ | Snyderův-Robinsonův syndrom · Snyder-Robinsonův syndrom |
| uk | Х-зчеплена розумова відсталість, тип Снайдера | Синдром Снайдера-Робінсона |
| zh | X连锁智力障碍，Snyder亚型 | Snyder-Robinson综合征 |
| tr | X'e bağlı zihinsel yetersizlik, Snyder tipi | Snyder-Robinson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309583 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010664 | E | validated | |
| MeSH | C536678 | E | validated | |
| UMLS | C0796160 | E | validated | |
| GARD | 5615 | 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 |
|---|---|---|---|---|---|---|---|---|
| SMS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11123 | ENSG00000102172 | 300105 | Xp22.11 | spermine synthase | 23805436[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 23897707[PMID]_23696453[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23897707[PMID]_23696453[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
66 annotations · validated 2019-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002751 | Kyphoscoliosis | |
| Frequent (79-30%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000175 | Cleft palate | |
| HP:0003199 | Decreased muscle mass | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000324 | Facial asymmetry | |
| HP:0008947 | Floppy infant | |
| HP:0001611 | Hypernasal speech | |
| HP:0002808 | Kyphosis | |
| HP:0000276 | Long face | |
| HP:0010511 | Long toe | |
| HP:0000275 | Narrow face | |
| HP:0000939 | Osteoporosis | |
| HP:0011308 | Slender toe | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001344 | Absent speech | |
| HP:0000463 | Anteverted nares | |
| HP:0010722 | Asymmetry of the ears | |
| HP:0000414 | Bulbous nose | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000678 | Dental crowding | |
| HP:0003698 | Difficulty standing | |
| HP:0002353 | EEG abnormality | |
| HP:0011153 | Focal motor seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0002540 | Inability to walk | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0004305 | Involuntary movements | |
| HP:0000369 | Low-set ears | |
| HP:0001336 | Myoclonus | |
| HP:0000160 | Narrow mouth | |
| HP:0007509 | Patchy hypo- and hyperpigmentation | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0002757 | Recurrent fractures | |
| HP:0000319 | Smooth philtrum | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000664 | Synophrys | |
| HP:0000029 | Testicular atrophy | |
| HP:0007687 | Unilateral ptosis | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000465 | Webbed neck | |
| Very rare (<4-1%) | ||
| HP:0010789 | Abnormality of the Leydig cells | |
| HP:0000248 | Brachycephaly | |
| HP:0012385 | Camptodactyly | |
| HP:0002181 | Cerebral edema | |
| HP:0000378 | Cupped ear | |
| HP:0000086 | Ectopic kidney | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0011003 | High myopia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001355 | Megalencephaly | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0000520 | Proptosis | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0000385 | Small earlobe | |
| HP:0000391 | Thickened helices | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23897707[PMID]_23696453[PMID]_19206178[PMID]_19277733[PMID]_18550699[PMID]_14508504[PMID]_8826448[PMID]_5823961[PMID]_30237987[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3063
- This record as JSON: /data/d/3063.json