ORPHA:500150
ZTTK syndrome
Synonyms: Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome · Zhu-Tokita-Takenouchi-Kim syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ZTTK syndrome | Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome · Zhu-Tokita-Takenouchi-Kim syndrome |
| fr | Syndrome ZTTK | Syndrome de Zhu-Tokita-Takenouchi-Kim · Syndrome de dysmorphie faciale-malformations cérébrales-anomalies musculosquelettiques-déficience intellectuelle |
| de | ZTTK-Syndrom | Zhu-Tokita-Takenouchi-Kim-Syndrom · Hirnfehlbildung-muskuloskelettale Anomalien-Gesichtsdysmorphie-Intelligenzminderung-Syndrom |
| es | Síndrome ZTTK | Síndrome de Zhu-Tokita-Takenouchi-Kim · Síndrome de dismorfia facial-malformaciones cerebrales-anomalías musculoesqueléticas-discapacidad intelectual |
| it | Sindrome ZTTX | Sindrome Zhu-Tokita-Takenouchi-Kim · Sindrome dismorfismi facciali-malformazioni cerebrali-anomalie muscoloscheletriche-disabilità intellettiva |
| nl | ZTTK-syndroom | Faciale dysmorfie - hersenmalformaties - musculoskeletale afwijkingen - intellectuele achterstand-syndroom · Syndroom van Zhu-Tokita-Takenouchi-Kim |
| pt | Malformação cerebral - anormalidades musculoesqueléticas - dismorfismo facial - síndrome da deficiência intelectual | |
| pl | Zespół ZTTK | Zespół Zhu,Tokita, Takenouchi i Kima |
| cs | Syndrom vrozených vad mozku, muskuloskeletálních abnormalit, faciálního dysmorfismu a intelektové nedostatečnosti | = en |
| uk | Синдром вад розвитку головного мозку-аномалій опорно-рухового апарату-дисморфізму обличчя-інтелектуальної недостатності | Синдром Чжу-Токіта-Такеноучі-Кіма · Синдром ZTTK |
| zh | 脑畸形-肌肉骨骼异常-面部畸形-智力障碍综合征 | Zhu-Tokita-Takenouchi-Kim综合征 |
| tr | Beyin malformasyonları-kas-iskelet sistemi anormallikleri-yüz dismorfizmi-zihinsel yetersizlik sendromu | ZTTK sendromu · Zhu-Tokita-Takenouchi-Kim sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617140 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014936 | E | validated | |
| UMLS | C4310696 | E | validated | |
| GARD | 13489 | E | validated | |
| MedDRA | 10081208 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SON | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11183 | ENSG00000159140 | 182465 | 21q22.11 | SON DNA and RNA binding protein | 27545680[PMID]_27545676[PMID]_27256762[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 32926520[PMID]_27545680[PMID]_27545676[PMID]_27256762[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27545680[PMID]_27545676[PMID]_27256762[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.
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HPO phenotypes
105 annotations · validated 2019-02-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001249 | Intellectual disability | |
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002538 | Abnormality of the cerebral cortex | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000729 | Autistic behavior | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0003508 | Proportionate short stature | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0430021 | Abnormal common carotid artery morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0011467 | Absent gallbladder | |
| HP:0009777 | Absent thumb | |
| HP:0001166 | Arachnodactyly | |
| HP:0100702 | Arachnoid cyst | |
| HP:0001631 | Atrial septal defect | |
| HP:0008765 | Auditory hallucinations | |
| HP:0000193 | Bifid uvula | |
| HP:0012582 | Bilateral renal dysplasia | |
| HP:0000592 | Blue sclerae | |
| HP:0007933 | Broad lateral eyebrow | |
| HP:0100307 | Cerebellar hemisphere hypoplasia | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000891 | Cervical ribs | |
| HP:0002308 | Chiari malformation | |
| HP:0002028 | Chronic diarrhea | |
| HP:0000175 | Cleft palate | |
| HP:0002212 | Curly hair | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002376 | Developmental regression | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002015 | Dysphagia | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0002097 | Emphysema | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0000577 | Exotropia | |
| HP:0000324 | Facial asymmetry | |
| HP:0025116 | Fetal distress | |
| HP:0002007 | Frontal bossing | |
| HP:0000293 | Full cheeks | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0002578 | Gastroparesis | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0002283 | Global brain atrophy | |
| HP:0000365 | Hearing impairment | |
| HP:0002937 | Hemivertebrae | |
| HP:0000085 | Horseshoe kidney | |
| HP:0010485 | Hyperextensibility at elbow | |
| HP:0005639 | Hyperextensible hand joints | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0002140 | Ischemic stroke | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000369 | Low-set ears | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0011330 | Metopic synostosis | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0011648 | Patent ductus arteriosus after birth at term | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0002126 | Polymicrogyria | |
| HP:0007100 | Progressive ventriculomegaly | |
| HP:0000529 | Progressive visual loss | |
| HP:0011220 | Prominent forehead | |
| HP:0000411 | Protruding ear | |
| HP:0002719 | Recurrent infections | |
| HP:0004482 | Relative macrocephaly | |
| HP:0002878 | Respiratory failure | |
| HP:0000902 | Rib fusion | |
| HP:0004442 | Sagittal craniosynostosis | |
| HP:0004433 | Secretory IgA deficiency | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0003100 | Slender long bone | |
| HP:0000319 | Smooth philtrum | |
| HP:0001027 | Soft, doughy skin | |
| HP:0045075 | Sparse eyebrow | |
| HP:0001257 | Spasticity | |
| HP:0011819 | Submucous cleft soft palate | |
| HP:0000233 | Thin vermilion border | |
| HP:0002326 | Transient ischemic attack | |
| HP:0030707 | Unilateral lung agenesis | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25590979[PMID]_27545676[PMID]_27545680[PMID]_27256762[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500150
- This record as JSON: /data/d/500150.json