Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability syndrome characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | |
| fr | Syndrome de déficience intellectuelle sévère-petite taille-troubles du comportement-dysmorphie faciale | |
| de | Schwere Intelligenzminderung-Kleinwuchs-Verhaltensstörungen-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de discapacidad intelectual-talla baja-trastornos de conducta-dismorfia facial | |
| it | Sindrome da disabilità intellettiva grave, bassa statura, anomalie del comportamento e dismorfismi facciali | |
| nl | Ernstige intellectuele achterstand - kleine gestalte - gedragsstoornissen - faciale dysmorfie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual grave-baixa estatura-perturbação comportamental-dismorfia facial | |
| pl | Zespół znaczna niepełnosprawność intelektualna-niski wzrost-problemy z zachowaniem-dysmorfia twarzy | |
| cs | Syndrom zahrnující těžkou mentální retardaci, malý vzrůst, poruchy chování a faciální dysmorfismus | |
| uk | Синдром тяжкої розумової відсталостїі-низькорослістю-поведінковими відхиленнями- дисморфізму обличчя | |
| zh | 重度智力障碍-身材矮小-行为异常-面部畸形综合征 | |
| tr | Ağır zihinsel yetersizlik-kısa boy-davranışsal anomalliler-dismorfik yüz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615541 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014238 | E | validated | |
| UMLS | C4750851 | 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 |
|---|---|---|---|---|---|---|---|---|
| TTI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26262 | ENSG00000129696 | 614426 | 8p12 | TELO2 interacting protein 2 | 23956177[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23956177[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
29 annotations · validated 2019-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000718 | Aggressive behavior | |
| HP:0000708 | Atypical behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000490 | Deeply set eye | |
| HP:0000752 | Hyperactivity | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000737 | Irritability | |
| HP:0001888 | Lymphopenia | |
| HP:0000400 | Macrotia | |
| HP:0002486 | Myotonia | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0000448 | Prominent nose | |
| HP:0000340 | Sloping forehead | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0000233 | Thin vermilion border | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 31737043[PMID]_31290144[PMID]_23956177[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391307
- This record as JSON: /data/d/391307.json