Digitorenocerebral Syndrome [Supplementary Concept]

A rare hereditary disorder associated with mutations in the TBC1D24 gene and characterized by MICROCEPHALY and facial abnormalities, SENSORINEURAL DEAFNESS, blindness and eye abnormalities, small or absent distal fingers and toes, seizures, and intellectual disability. Heart and kidney defects may also be present. OMIM: 220500

Date introduced: November 5, 2012

MeSH Unique ID: C563052

Heading Mapped to:

• Hand Deformities, Congenital
• Hearing Loss, Sensorineural
• Intellectual Disability
• Nails, Malformed
• Craniofacial Abnormalities

Entry Terms:

• Eronen Syndrome
• Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
• Brachydactyly due to Absence of Distal Phalanges
• DOOR Syndrome