Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

Genetics

• associated with defects in CBL

Clinical manifestations

• phenotype with similarities to Noonan syndrome
• clinical features are highly variable, including
  • facial dysmorphism
  • short neck
  • developmental delay
  • hyperextensible joints
  • thorax abnormalities with widely spaced nipples
• facial features consist of triangular face with
  • hypertelorism
  • large low-set ears
  • ptosis
  • flat nasal bridge
• some patients manifest cardiac defects

Laboratory

• see ARUP consult

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• Noonan's syndrome
• Noonan-like syndrome (Noonan-like/multiple giant cell lesion syndrome)

Database

• OMIM: https://mirror.omim.org/entry/613563