Mullegama-Klein-Martinez syndrome

A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis

A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25.

Signs and symptoms

• Submucous cleft of soft and hard palate
• Absent stapes
• Microcephaly
• Expressive language delay
• Feeding difficulties
• Low anterior hairline
• Clinodactyly of the 5th finger
• Facial palsy
• Preauricular pit
• Preauricular skin tag

Also known as: MKMS; NEDXCF; X-linked neurodevelopmental disorder with craniofacial abnormalities