Kosaki overgrowth syndrome

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Synonyms: Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet scoliosis distinctive dysmorphic facial features (prominent forehead proptosis downslanting palpebral fissures broad nasal bridge thin upper lip and pointed chin) hyperelastic thin and fragile skin lipodystrophy and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis camptodactyly progressive flexion contractures joint dislocation and cerebrovascular complications among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Kosaki overgrowth syndrome?

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