Orphanet: X linked intellectual disability acromegaly hyperactivity syndrome

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X-linked intellectual disability-acromegaly-hyperactivity syndrome

Disease definition

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.

ORPHA:85327

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Childhood
ICD-10: Q87.8
ICD-11: LD90
OMIM: -
UMLS: C4304407
MeSH: -
GARD: -
MedDRA: -

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X-linked intellectual disability-acromegaly-hyperactivity syndrome

ORPHA:85327

A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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