ORPHA:487796
Takenouchi-Kosaki syndrome
Synonyms: Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Takenouchi-Kosaki syndrome | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
| fr | Syndrome Takenouchi-Kosaki | Syndrome de macrothrombocytopénie-lymphoedème-retard de développement-dysmorphie faciale-camptodactylie |
| de | Takenouchi-Kosaki-Syndrom | |
| es | Síndrome de Takenouchi-Kosaki | |
| it | Sindrome di Takenouchi-Kosaki | Sindrome macrotrombocitopenia-linfedema-ritardo dello sviluppo-dismorfismi facciali-camptodattilia |
| nl | Syndroom van Takenouchi-Kosaki | |
| pt | Síndrome Takenouchi-Kosaki | Deficiência CDC42 |
| pl | Zespół makrotrombocytopenii, obrzęku limfatycznego, opóźnienia rozwoju, dysmorfii twarzy I przykurczów palców | Zespół Takenouchiego i Kosakiego |
| cs | Syndrom zahrnující makrotrombocytopenii, lymfedém, opoždění vývoje, faciální dysmorfismus a kamptodaktylii | Takenouchiho-Kosakiho syndrom · Takenouchi-Kosakiho syndrom |
| uk | Синдром Такенучі-Косакі | Синдром макротромбоцитопенії-лімфедеми-затримки розвитку-дизморфізму обличчя- камптодактилії |
| zh | 巨血小板减少-淋巴水肿-发育迟缓-面部畸形-先天性指屈曲综合征 | Takenouchi-Kosaki综合征 |
| tr | Makro trombositopeni-lenfödem-gelişme geriliği-fasiyal dismorfizm-kamptodaktili sendromu | Takenouchi-Kosaki sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616737 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1 | NTBT | attributed | validated |
| MONDO | 0014757 | E | validated | |
| UMLS | C4225222 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - 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 - ORPHA:717877Rare miscellaneous disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDC42 | Disease-causing germline mutation(s) in | Assessed | HGNC:1736 | ENSG00000070831 | 116952 | 1p36.12 | cell division cycle 42 | 26386261[PMID]_26708094[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 26708094[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26708094[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
71 annotations · validated 2020-01-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0410263 | Brain imaging abnormality | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0011877 | Increased mean platelet volume | |
| HP:0001249 | Intellectual disability | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002719 | Recurrent infections | |
| HP:0002650 | Scoliosis | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001344 | Absent speech | |
| HP:0000414 | Bulbous nose | |
| HP:0012385 | Camptodactyly | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0007033 | Cerebellar dysplasia | |
| HP:0030084 | Clinodactyly | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000689 | Dental malocclusion | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0007655 | Eversion of lateral third of lower eyelids | |
| HP:0000577 | Exotropia | |
| HP:0000454 | Flared nostrils | |
| HP:0001371 | Flexion contracture | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0002721 | Immunodeficiency | |
| HP:0000023 | Inguinal hernia | |
| HP:0000343 | Long philtrum | |
| HP:0001004 | Lymphedema | |
| HP:0000252 | Microcephaly | |
| HP:0011800 | Midface retrusion | |
| HP:0000341 | Narrow forehead | |
| HP:0003764 | Nevus | |
| HP:0000648 | Optic atrophy | |
| HP:0001845 | Overlapping toe | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002465 | Poor speech | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011220 | Prominent forehead | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0000508 | Ptosis | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0000319 | Smooth philtrum | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0001182 | Tapered finger | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0005160 | Total anomalous pulmonary venous return | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000465 | Webbed neck | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000687 | Widely spaced teeth | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26708094[PMID]_26386261[PMID]_29394990[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/487796
- This record as JSON: /data/d/487796.json