Melnick-Needles syndrome

Pathology

• severe congenital bone disorder

Genetics

• associated with defects in FLNA

Clinical manifestations

• typical facies
  • exophthalmos
  • full cheeks,
  • micrognathia
  • malalignment of teeth
• flaring of the metaphyses of long bones
• S-like curvature of bones of legs
• irregular constrictions in the ribs
• sclerosis of base of skull

More general terms

• otopalatodigital syndrome

Database

• OMIM: https://mirror.omim.org/entry/309350