KBG syndrome
Overview
A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
Symptoms
* Mental retardation * Brachycephaly * Telecanthus * Wide eyebrows * Large teeth * Abnormal vertebrae * Short metacarpals * Short femoral necks * Funnel chest * Short stature * Underdeveloped skeletal bones * Head and face abnormalities * Teeth malformations * Jaw malformations * Short head * Wide eyebrows * Funnel chest * Sparse eyebrows * Rib abnormality * Vertebral abnormalities * Short skull * Delayed bone age * Short fingers * Abnormal thigh bone * Large teeth * Mental retardation * Short stature * Round face * Abnormal teeth positioning * Missing teeth * Small mouth * Short neck * Abnormal ear position * Low hair line at back of neck * Weak eye muscles * Webbed fingers * Developmental delay * Kyphosis * Seizures
Causes
The exact cause of KBG syndrome is unknown, but most cases are believed to be autosomal dominant traits with variable degree of penetrance.
Treatment
* Treat the underlying condition * Growth hormone therapy –Indicated in GHD and some other forms of short stature (renal failure, Turner syndrome, Prader-Willi syndrome, small-for-gestational age without catch-up growth) –Earlier initiation to optimize final height outcome –Nightly subcutaneous administration of GH at 25–50 µ g/kg/day - Monitor for loss of other pituitary hormones and replace all deficiencies - Monitoring growth hormone therapy –Close follow-up with pediatric endocrinologist every 3–6 months –Monitor side effects of GH treatment –Monitor serum IGF-I and IGFBP-3 levels –Dose adjustments based on IGF values and growth response