X-linked intellectual disability-short stature-overweight syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-short stature-overweight syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-petite taille-surpoids | |
| de | X-chromosomale Intelligenzminderung-Kleinwuchs-Übergewicht-Syndrom | |
| es | Síndrome de discapacidad intelectual-talla baja-sobrepeso ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva-bassa statura-sovrappeso legata all'X | |
| nl | X-gebonden intellectuele achterstand - kleine gestalte - overgewicht-syndroom | |
| pt | Síndrome de défice intelectual baixa estatura excesso de peso ligada ao cromossoma X | |
| pl | Zespół niepełnosprawności intelektualnej, niskiego wzrostu i nadwagi sprzężony z chromosomem X | |
| cs | Syndrom zahrnující X-vázanou mentální retardaci, malý vzrůst a nadváhu | |
| uk | Х-зчеплений синдром розумової відсталості-низькорослості-надмірної ваги | |
| zh | X连锁-智力障碍-身材矮小-超重综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-kısa boy-aşırı kilo sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300957 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010496 | E | validated | |
| UMLS | C5681122 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3059X-linked intellectual disability, Gu type moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| THOC2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19073 | ENSG00000125676 | 300395 | Xq25 | THO complex subunit 2 | 26166480[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 26166480[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26166480[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
37 annotations · validated 2019-09-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0025502 | Overweight | |
| HP:0004322 | Short stature | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000739 | Anxiety | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000337 | Broad forehead | |
| HP:0007033 | Cerebellar dysplasia | |
| HP:0004437 | Cranial hyperostosis | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008734 | Decreased testicular size | |
| HP:0000716 | Depression | |
| HP:0001288 | Gait disturbance | |
| HP:0002171 | Gliosis | |
| HP:0000348 | High forehead | |
| HP:0001385 | Hip dysplasia | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0000316 | Hypertelorism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000054 | Micropenis | |
| HP:0001658 | Myocardial infarction | |
| HP:0000639 | Nystagmus | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0001250 | Seizure | |
| HP:0000742 | Self-mutilation | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000486 | Strabismus | |
| HP:0006986 | Upper limb spasticity | |
Annotation source: 26166480[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457240
- This record as JSON: /data/d/457240.json