New updated Orphanet summaries: June/July/August 2021

Hajdu-Cheney syndrome: Disease definition

A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.
The summary has just been updated on Orphanet (ORPHA:955) – June 2021 and revised by  Dr Soren FAERGEMAN, Dr Pernille GREGERSEN and Dr Gen NISHIMURA for ERN ITHACA

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Wiedemann-Rautenstrauch syndrome: Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.
The summary has just been updated on Orphanet (ORPHA:3455) – June 2021 and revised by Pr Raoul HENNEKAM for ERN ITHACA

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CNTNAP2-related developmental and epileptic encephalopathy: Disease definition

A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.
The summary has just been updated on Orphanet (ORPHA:163681) – June 2021 and revised by  Dr Katalin HETZELT, Pr André REIS andPr Christiane ZWEIER for ERN ITHACA

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NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance: Disease definition

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.
The summary has just been updated on Orphanet (ORPHA:600663) – June 2021 and revised by  Dr Katalin HETZELT, Pr Christiane ZWEIER  for ERN ITHACA

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Nijmegen breakage syndrome: Disease definition

A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.
The summary has just been updated on Orphanet (ORPHA:647) – July 2021 and revised by Pr Krystyna CHRZANOWSKA for ERN ITHACA

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Mosaic trisomy 8: Disease definition

A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
The summary has just been updated on Orphanet (ORPHA:96061) – July 2021 and revised by Pr C.M.A. [Conny] VAN RAVENSWAAIJ-ARTS for ERN ITHACA

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Wiedemann-Steiner syndrome: Disease definition

A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioural problems, developmental delay and, most commonly, mild to moderate intellectual disability.
The summary has just been updated on Orphanet (ORPHA:319182) – August 2021 and revised by Pr Hans BJORNSSON – Dr Floor DUIJKERS – Dr Wendy JONES – for ERN ITHACA

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Oculodentodigital dysplasia: Disease definition

A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.
The summary has just been updated on Orphanet (ORPHA:2710) – August 2021 and revised by Dr Ausra MATULEVICIENE for ERN ITHACA

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