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 ]