Nievergelt syndrome
Overview
Nievergelt syndrome: A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies
Symptoms
The list of signs and symptoms mentioned in various sources for Nievergelt syndrome includes the 13 symptoms listed below: * Dwarfism * Elbow dysplasia * Dislocation of ulna head * Dislocation of radial head * Radioulnar synostosis * Short head * Flexion of fingers * Dysplasia of lower legs * Knock-knee * Clubfoot * Deformed great toes * Hearing loss * Tarsal bone synostosis
Causes
* Clubfoot * Dwarfism * Hearing loss * Knock-knee * Short head
Diagnosis
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.