Gloomy face syndrome
Overview
Gloomy face syndrome: A rare genetic disorder characterized primarily by dwarfism and a gloomy facial appearance.
Symptoms
The list of signs and symptoms mentioned in various sources for Gloomy face syndrome includes the 3 symptoms listed below: * Very short stature * Facial dysmorphism * Gloomy face
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. 1. Is there disproportion of the trunk and extremities? These findings would suggest achondrodysplasia. 2. Is there obesity? The finding of obesity would suggest Fröhlich's syndrome, Laurence-Moon-Bardet-Biedl syndrome, and Brissaud's infantilism. 3. Is there appearance of wasting and/or malnutrition? The presence of wasting or other signs of malnutrition suggests chronic nephritis, congenital heart disease, progeria, malnutrition, and rickets. 4. Is there an unusual appearance to the skull or face? These findings suggest mongolism, cretinism, microcephaly, hydrocephalus, and cleidocranial dysostosis, among other conditions. 5. Are there abnormal secondary sex characteristics? The development of secondary sex characteristics is impaired in Turner's syndrome and pituitary dwarfism.