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.

The summary has just been updated on Orphanet (ORPHA:570) – February2021 and revised by Dr Stéphanie MOORTGAT for ERN ITHACA.

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Moebius syndrome

A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.
The summary has just been updated on Orphanet (ORPHA:570) – February2021 and revised by Dr Maria Francesca BEDESCHI (for ERN ITHACA) and Dr Odoardo PICCIOLINI.

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Coffin-Lowry syndrome

A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
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

A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.

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

A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.The summary has just been updated on Orphanet (ORPHA:261494) – January 2021 and revised by Pr Tjitske KLEEFSTRA  for ERN ITHACA.

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Temple-Baraitser syndrome

A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.
The summary has just been updated on Orphanet (ORPHA:420561) – January 2021 and revised by Dr Catheline VILAIN  for ERN ITHACA.

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