Autoszomális recesszív
Caused by changes in both copies of SH3PXD2B, which is involved in cell structures used to remodel surrounding tissue during development of bone and other organs.
Tünetek és jelek
Raised eye pressure (glaucoma), prominent eyes and widely spaced eyes are typical. Skeletal malformations are also seen, and heart defects are common.
Mit változtat a diagnózis
Regular eye examinations to detect and treat raised eye pressure, together with heart assessment and orthopaedic follow-up. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.
Vizsgált gének
Más néven
autosomal recessive Melnick-Needles syndrome (formerly); Borrone Dermatocardioskeletal syndrome; Borrone di Rocco Crovato syndrome; FTHS; megalocornea, multiple skeletal anomalies, and developmental delay; Melnick-Needles syndrome, autosomal recessive; Ter Haar syndrome
