Orphanet new summaries’ updates


MEHMO syndrome
A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.
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Moebius syndrome
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Coffin-Lowry syndrome
The summary has just been updated on Orphanet (ORPHA:192) – January 2021 and revised by Dr Stefania BIGONI and Pr Alessandra FERLINI for ERN ITHACA.
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Campomelic dysplasia
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype.
The summary has just been updated on Orphanet (ORPHA:140) – January 2021 and revised by Dr Maria Francesca BEDESCHI for ERN ITHACA.
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Myhre syndrome
The summary has just been updated on Orphanet (ORPHA:2588) – January 2021 and revised by Dr Livia GARAVELLI and Dr Simonetta ROSATO for ERN ITHACA.
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Kleefstra syndrome
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Temple-Baraitser syndrome
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