Kosaki overgrowth syndrome
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 April 2024
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Kosaki overgrowth syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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