June 2021: New updated Orphanet summaries

Proximal Xq28 duplication syndrome

A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile-onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.
The summary has just been updated on Orphanet (ORPHA:1762) – June 2021 and revised by Dr Mathilde PUJALTE – Pr Damien SANLAVILLE for ERN ITHACA, and Dr Caroline SCHLUTH BOLARD.

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Okihiro syndrome

A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.
The summary has just been updated on Orphanet (ORPHA:93293) – June 2021 and revised by Dr Clémence VANLERBERGHE  for ERN ITHACA.

Follow the link to read the summary in English / to read the summary in French, please follow this link

Acrocallosal syndrome

A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.
The summary has just been updated on Orphanet (ORPHA:36) – June 2021 and revised by Pr Tania ATTIE-BITACH for ERN ITHACA.

Follow the link to read the summary