Conditions / Syndrome

Noonan syndrome-like disorder with loose anagen hair 1

info ยท Syndrome

A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25.

Signs and symptoms

  • Short stature
  • Relative macrocephaly
  • Joint hypermobility
  • Global developmental delay
  • Long eyelashes
  • Sparse hair
  • Failure to thrive
  • Broad forehead
  • Loose anagen hair
  • Sparse scalp hair