Smith-Lemli-Optiz Syndrome

• distinctive facial features
  • microcephaly with bitemporal narrowing, a short upturned nose with anteverted nares, unilateral or bilateral ptosis, epicanthus, and retrognathia

See Reference 1 below

• microcephaly
• intellectual disability or learning problems
• behavioral problems
  • autism
• Feeding difficulties and growth delay
• Malformations
  • heart
  • lungs
  • kidneys
  • gastrointestinal tract
  • genitals
  • polydactyly
  • syndactyly

• Cataract (congenital or acquired)
• Strabismus
• Demylenation of optic nerves
• Sclerosis of lateral geniculate bodes
• Opsoclonus
• Poor visual following behavior

• DHCR7 gene mutations
• Inherited in an autosomal recessive pattern.

1. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome
   
2. NLM Link