Seckel syndrome

From Wikipedia, the free encyclopedia

The Seckel syndrome or microcephalic primordial dwarfism, also often derogatorily called "bird-headed dwarfism", is a congenital nanosomic disorder supposed to be caused by defects of genes on chromosome 3 and 18.

Symptoms include:

• severe mental retardation (more than half of the patients have an IQ below 50)
• achondroplasia
• microcephaly
• sometimes pancytopenia
• cryptorchidism
• low birth weight
• dislocations of pelvis and elbow
• unusually large eyes
• low ears
• small chin