Xp22.3 microdeletion syndrome
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion) but is mainly characterized by X linked ichthyosis mild-moderate intellectual deficit Kallmann syndrome short stature chondrodysplasia punctata and ocular albinism. Epilepsy attention deficit-hyperactivity disorder autism and difficulties with social communication can be associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Xp22.3 microdeletion syndrome?
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Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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