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Melnick-Needles syndrome (MNS) is a rare disorder marked by the association of skeletal dysplasia (with bowing of long bones, sclerosis of the skull base and ribbon-like ribs), and a characteristic face (hirsute forehead, prominent supraorbital ridges, prominent eyes, full cheeks and marked micrognathia). Mental development is not affected. Ear and chest infections are common during childhood; they can lead to complications like hearing loss. About 50 cases have been reported, most of them are sporadic. The disease is lethal in males. A distinct embryopathy has been described in males and is characterised by exophtalmos, omphalocele and/or malrotation of the gut and major skeletal anomalies (thin calvaria, curved, long bones, absence of thumb, and vertebral column anomalies). This syndrome belongs to the phenotypic spectrum of fronto-oto-palato-digital osteodyplasia, which encompasses oto-palato-digital syndrome type 1 and 2, MNS and frontometaphyseal dysplasia. These syndromes are X-linked disorders with a weaker expression in carrier females, and are all are due to mutations in the FLNA gene, encoding the cytoskeletal protein filamin A. The pathophysiology of MNS remains unknown. Prenatal diagnosis of a male foetus in a woman with MNS has been described. Prognosis is variable, it depends on sex and the signs present. Multidisciplinary management must be adapted to each patient (orthopaedic, ear, nose and throat, paediatric, genetic counselling, etc.). |