/deafness-intellectual disability, Martin-Probst type syndrome

deafness-intellectual disability, Martin-Probst type syndrome

Rare Disease

MONDO:0010353

Also Known As

Martin-Probst syndromeX-linked deafness-intellectual disability syndrome syndromeintellectual disability, X-linked, syndromic, Martin-Probst typemartin-probst syndrome, X-linked recessivemental retardation, X-linked, syndromic, Martin-Probst typeMRXSMPMartin-Probst deafness-intellectual disability syndromeMartin-Probst deafness-mental retardation syndromedeafness-intellectual disability syndrome, Martin-Probst typeintellectual disability, X-linked, syndromic, MARTIN-Probst typemental retardation, X-linked, syndromic, MARTIN-Probst type

Definition

A syndrome characterized 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 localized to the q1-21 region of the X chromosome.