Renpenning syndrome

Renpenning Syndrome is an x-linked disorder that describes the symptom complex of mental retardation, microcephaly, leanness and mild dwarfism.

Due to the x-chromosomal inheritance mainly men are affected by the disease, female carriers have no restrictions. Characteristic craniofacial features include a long triangular face, half hairless eyebrows, a large plump nose, a short philtrum and spoon-shaped protruding ears.
Renpenning syndrome is an x-linked disorder that describes the symptom complex of mental retardation, microcephaly, leanness and mild dwarfism. Due to the x-chromosomal inheritance, mainly males are affected by the disease, female cerebellum have no limitations. Characteristic craniofacial features include: Long triangular face, Half hairless eyebrows, Large plump or plump nose, Short philtrum, and lobing, protruding ears.

Already at an early age, the disease manifests itself through delayed motor and language development as well as the more common features such as microcephaly. From a differential diagnosis, the fragile X syndrome can be distinguished, but where there is no microcephal