Schinzel-Giedion syndrome

Schinzel-Giedion syndrome is an autosomal dominant disease manifesting multiple malformations. This affects the face, extremities, and skeleton as well as internal organs (especially the urogenital tract such as renal malformations).

Male patients often have a micropenis and hypospadias, while female patients have hypoplastic labia majora and minora. Most patients die in the first weeks of life as a result of numerous malformations.

Survivors remain heavily retarded and prone to convulsions.

Additional features include a deep furrow under the lower eyelid and grossed facial features.