neurofibromatosis-Noonan syndrome

A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromos

A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.

Signs and symptoms

• Multiple cafe-au-lait spots
• Posteriorly rotated ears
• Low-set ears
• Hypertelorism
• Downslanted palpebral fissures
• Low posterior hairline
• Axillary freckling
• Specific learning disability
• Ptosis
• Macrocephaly

Also known as: NFNS; Noonan neurofibromatosis syndrome; neurofibromatosis type 1-Noonan syndrome; neurofibromatosis with Noonan phenotype