Genee-Wiedemann syndrome or disease

An extremely rare genetic mental retardation-multiple congenital anomalies syndrome. The facial characteristics include downward slanting palpebral fissures, cleft palate, micrognathia and malar hypoplasia, malformed ears and eyelids and a broad nasal ridge. Limb anomalies include shortened and bowed forearms, incompletely developed ulnar and radius bones, absence of 5th fingers and toes, and abnormal growth of the tibia and fibula bones. Other features include supernumerary vertebrae and other vertebral segmentation and rib defects, heart defects (patent ductus arteriosus, ventricular septal defect, ossium primum, and endocardial cushion defect), lung disease from chronic infection, supernumerary nipples, single umbilical artery, absence of the hemidiaphragm, and seizures. Mental retardation may be associated. Inheritance is believed to be autosomal recessive.

In his first description of 1969 Genée assumed the condition to be an extreme form of dysostosis mandibulofacialis. Wiedemann in 1973 described it as a separate entity.

• E. Genée:
  Une forme de dysostose mandibulo-faciale.
  Journal de génétique humaine, Geneva, 1969, 17: 45-52.
• H.-R. Wiedemann:
  Missbildungs-Retardierungs-Syndrom mit Fehlen des 5. Strahls an Händen und Füssen, Gaumenspalte, dysplastische Ohren und Augenlidern und radioulnarer Synostose.
  Klinische Pädiatrie, Stuttgart, 1973; 185: 181-186.
• H. Pashayan, M. Feingold:
  Case report 28. Syndrome Identification, 1975, 3(1): 9-10.
• L. S. Wildervanck:
  Case report 28. Syndrome Identification, 1975, 3(1): 1-13.
• M. Miller, R. Fineman, D. Smith:
  Postaxial acrofacial dysostosis syndrome.
  Journal of Pediatrics, St. Louis, 1979, 95: 970-975.
• J. M. Opitz, G. B. Stickler:
  The Genée-Wiedemann syndrome, an acrofacial dysostosis – further observations.
  American Journal of Medical Genetics, New York, 1987, 971-975.