deafness-intellectual disability, Martin-Probst type syndrome

info · Genetic · ICD-10: Q87.8

A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.

Signs and symptoms

Wide intermamillary distance
Hypoplastic nipples
Wide nasal bridge
Malar flattening
Telecanthus
Sensorineural hearing impairment
Umbilical hernia
Dental malocclusion
Low-set ears
Epicanthus

Also known as: Martin-Probst syndrome; mental retardation, X-linked, syndromic, Martin-Probst type