January 2021: 4 New Orphanet summaries updated by ITHACA experts


The summary has been updated on Orphanet (ORPHA:500163) – December 2020 and reviewed by Dr Meena BALASUBRAMANIAN, Pr Tjitske KLEEFSTRA (ITHACA) and Dr Jet VAN DER SPEK.
The summary has been updated on Orphanet (ORPHA:3047) – December 2020 and reviewed by Dr Livia GARAVELLI and Dr Gabriele TRIMARCHI (ITHACA).
An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.
The summary has been updated on Orphanet (ORPHA:85293) – December 2020 and reviewed by Dr Marcia RODRIGUES and Dr Marta SOARES (ITHACA).
A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.
The summary has been updated on Orphanet (ORPHA:1146) – December 2020 and reviewed by Dr Livia GARAVELLI and Dr Marzia POLLAZZON (ITHACA).