Table 5 Neurological rare diseases
From: Bone fragility in patients affected by congenital diseases non skeletal in origin
Disease | OMIM phenotype number | OMIM gene/locus number | Gene | Chromosome location | Bone phenotype (specific signs and symptoms) | Bone biochemical markers |
|---|---|---|---|---|---|---|
Rett Syndrome | 312750 | 300005 | MECP2 | Xq28 | Short stature, deceleration of head growth, scoliosis, and growth retardation, kyphosis, small feet, peripheral vasomotor disturbance, muscle wasting, usually low bone mineral density, high risk of fractures The evolution and severity of the disease are heterogeneous and several atypical variants were observed | Low bone turnover in the modeling period of childhood and youth, normal bone turnover in adults with the exception of higher serum BSAP |