Pterygia, Mental Retardation, and Distinctive Craniofacial Features disease is a very rare syndrome characterized by short stature, underdeveloped genitals and various skull and facial anomalies such as: pterygia, trigonocephaly, bulging forehead, flat face, small jaw, recessed jaw, small ears, missing ears, and some other symptoms. Less than 20 cases have been reported affected with this disease worldwide.

Pterygia, Mental Retardation, and Distinctive Craniofacial Features disease is a genetic condition; the mode of inheritance is likely to be an autosomal dominant pattern. It is probably caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. The exact chromosomal region affected in this disease has not been identified yet.