Which physical findings are characteristic of Smith-Lemli-Opitz syndrome (SLOS)?

Updated: Jan 27, 2021
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Intrauterine growth retardation (IUGR) is common, as is short stature or abnormally low weight for height, altered muscle tone (hypotonia), and often a distinctive shrill cry.

Growth charts for SLOS have been published. [24] Rarely, hydrops fetalis occurs.

Congenital anomalies evident upon physical examination may include the following:

  • Microcephaly

  • Intracranial germinoma [25]

  • Broad nasal tip with anteverted nostrils

  • Micrognathia

  • Ptosis of eyelids

  • Epicanthal folds

  • Strabismus

  • Cataracts (may also develop postnatally [26] )

  • Broad maxillary alveolar ridges

  • Slanted or low-set ears

  • Syndactyly of second and third toes

  • Postaxial polydactyly

  • Hypospadias or cryptorchidism in males and, occasionally, complete sex reversal (ie, 46,XY females)

  • Cleft palate

  • Heart murmur or cyanosis or respiratory distress secondary to congenital cardiac defects

  • Respiratory distress secondary to pulmonary anomalies

Considerable phenotypic variance may be present within affected families, between individuals, and over time in the neonate, infant, child, and adult with Smith-Lemli-Opitz syndrome. Mildly affected individuals may exhibit only subtle dysmorphic facies and learning disabilities, whereas severely affected individuals may have complete sex reversal, lethal cardiac and brain malformations, microcephaly, cleft palate, and multiorgan system failure.

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