Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina
Overview
A rare genetic condition characterized by mental retardation, dwarfism, retinal pigmentary degeneration and hairy eyelashes and eyebrows.
Symptoms
* Destruction of tear canals * Slow dentition * Poor vision * Pigmentary degeneration of retina * Different colored eyes * Hairy eyebrows * Hairy eyelashes * Alopecia * Dwarfism * Degenerated scalp hair follicles
Causes
Conditions listing Oliver-McFarlane syndrome as a symptom may also be potential underlying causes of Oliver-McFarlane syndrome. Our database lists the following as having Oliver-McFarlane syndrome as a symptom of that condition: * Amaurosis hypertrichosis
Diagnosis
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones. If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.
Prognosis
The 'prognosis' of Oliver-McFarlane syndrome usually refers to the likely outcome of Oliver-McFarlane syndrome. The prognosis of Oliver-McFarlane syndrome may include the duration of Oliver-McFarlane syndrome, chances of complications of Oliver-McFarlane syndrome, probable outcomes, prospects for recovery, recovery period for Oliver-McFarlane syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Oliver-McFarlane syndrome. Naturally, such forecast issues are by their nature unpredictable.
Resources
Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina: Another name for Oliver-McFarlane syndrome