X-linked intellectual disability-acromegaly-hyperactivity syndrome

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X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria aggressive behaviour a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.

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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X-linked intellectual disability-acromegaly-hyperactivity syndrome?

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