This is a rare condition characterised by facial and skeletal abnormalities. Signs and symptoms The main features of this condition are evident in skeleton and face.Facial features: Macrocephaly Frontal bossing Midface hypoplasia Depressed nasal root Small upturned nose PrognathismSkeletal features: Shortened limbs (more pronounced in lower limbs) Short stature Progressive coxa varaOn X ray: Abnormal vertebral bodies (particularly in the lumbar region) Avascular necrosis of the capital femoral epiphyses Striated metaphyses Generalized mild osteoporosis Delayed ossification of the carpal bonesOther associated conditions: These are variably present Cataracts Hypogammaglobulinemia Intellectual disability Short dental roots Subglottic stenosis Tracheobronchomalacia Genetics This condition has been associated with mutations in the Tonsoku-like, DNA repair protein (TONSL) gene. [Source: Wikipedia ]