January 2021: 4 New Orphanet summaries updated by ITHACA experts

A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.
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.

A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.

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).