Short limb dwarf edema iris coloboma
Overview
Main name of condition: Wegmann Jones Smith syndrome Other names or spellings for Wegmann Jones Smith syndrome: Short limb dwarf, oedema, iris coloboma, Short limb dwarf, edema, iris coloboma. Wegmann Jones Smith syndrome: A syndrome which is characterised by the occurrence of short limbs, oedema and iris coloboma.
Symptoms
The list of signs and symptoms mentioned in various sources for Wegmann Jones Smith syndrome includes the 8 symptoms listed below: * Short limbs * Oedema * Iris coloboma * Iris coloboma * Oedema * Short arms * Short legs * Dwarfism Note that Wegmann Jones Smith syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Wegmann Jones Smith syndrome signs may refer to those signs only noticable by a doctor.
Causes
Other Possible Causes of these Symptoms * Dwarfism * Iris coloboma * Iris coloboma * Oedema * Oedema * Short arms * Short legs
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.