Diseases title

Deafness - intellectual deficit, Martin-Probst type )

Orpha Number: 85321
Martin-Probst syndrome, X-linked deafness - intellectual deficit syndrome

This syndrome is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.
source: Orphanet