Hengel-Maroofian-Schols syndrome

A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mu

A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23.

Signs and symptoms

• Thin corpus callosum
• Severe intellectual disability
• Thick vermilion border
• Hyperreflexia
• Open mouth
• Global developmental delay
• Upper motor neuron dysfunction
• Delayed gross motor development
• Everted lower lip vermilion
• Abnormal CNS myelination