September 2021 : New updated Orphanet Summaries

Ulnar-mammary syndrome

A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.
The summary has just been updated on Orphanet (ORPHA : 97297) – September 2021 and revised by Dr Stefania Bigoni and Pr Alessandra Ferlini for ERN-ITHACA.


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Bohring-Opitz syndrome  

A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.
The summary has just been updated on Orphanet (ORPHA : 3138) – September 2021 and revised by Dr Perrine Brunelle for ERN-ITHACA.


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Cornelia de Lange Syndrome

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.
The summary has just been updated on Orphanet (ORPHA : 199) – September 2021 and revised by Dr Alice GOLDENBERG and Dr Gabriella VERA for ERN-ITHACA.


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