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Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Disease definition
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.
ORPHA:487796
Classification level: Disorder- Synonym(s):
- Takenouchi-Kosaki syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Neonatal
- ICD-10: -
- OMIM: 616737
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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