Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

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Synonyms: Au-Kline syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability hypotonia craniofacial dysmorphism (such as ridged metopic sutures long palpebral fissures broad nasal bridge hypoplastic alae nasi low-set prominent ears prominent midline tongue groove and downturned mouth) congenital heart defects and variable skeletal abnormalities including hip dysplasia vertebral anomalies and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.

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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