Coffin-Lowry syndrome

Epidemiology

• rare
• affects males & females equally, but males may be more severely affected

Pathology

• craniofacial defects
  • maxillary hypoplasia
• skeletal defects
  • kyphoscoliosis
  • pectus carinatum
• heart & kidney involvement may occur

Genetics

• mutation in gene for RSK2

Clinical manifestations

• hypotonia
• short stature
• mental retardation
• broad nose
• protruding nostrils
• prominent brow
• downslanting palpebral fissures
• hypertelorism
• large ears
• thick eyebrows
• short, hyperextensible, tapered fingers
• hearing impairment
• awkward gait
• flat feet

Management

• physical therapy
• speech therapy

Prognosis:

• no standard treatment
• no cure

More general terms

• genetic syndrome (multisystem disorder)
• cephalic malformation

Patient information

Coffin-Lowry syndrome, patient information

Database

• OMIM: https://mirror.omim.org/entry/303600