Melnick-needle syndrome

Melnick-Needles osteodysplasia combines skeletal dysplasia (ligamentous ribs, bending of the long bones, sclerotherapy of the skull base) with characteristic facial features, including a hairy forehead, full cheeks, and pronounced microgia.

Along with several other syndromes, Melnick-Needles syndrome is one of the fronto-oto-palato-digital skeletal dysplasias. The cause is mutations in the FLNA gene. In female fetuses, the prognosis depends on the severity of the symptoms. For male fetuses the disease is fatal already in the womb.

Reason for the syndrome is a characteristic embryopathy with exophthalmos, omphalocele, skeletal anomalies and intestinal malrotation.

Melnick-Needles osteodysplasia combines skeletal dysplasia (ligamentous ribs, bending of the long iliac bones, sclerotherapy of the skull base) with characteristic facial features, including a hairy forehead, full cheeks and pronounced microgia.

Along with several other syndromes, Melnick-Needles syndrome belongs to the fronto-oto-palato-digital skeletal dysplasias. The cause is mutations in the FLNA gene. In females, the prognosis depends on the severity of the symptoms. For males, the disease still ends in the womb.

Reason for the syndrome is a characteristic embryopathy with exophthalmos, omphalocele, skeletal abnormalities and intestinal malrotation. & nbsp;