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Rutledge multiple congenital anomaly syndrome

Wednesday 12 September 2007

Rutledge multiple congenital anomaly syndrome (RMCAS) is a severe neonatal and lethal form of Smith-Lemli-Opitz syndrome (SLOS) (Ex-MIM.268670)


- microcephaly
- hypoplastic cerebral frontal lobes
- hypoplastic cerebellum
- agenesis of the splenium of corpus callosum
- abnormal facies

  • hypertelorism
  • bilateral inner epicanthal folds
  • broad nasal bridge
  • anteverted nares
  • patent choanae
  • low set ears
  • complex conchal formation
  • high-arched palate
  • thick maxillary alveolar ridges
  • micrognathia

- broad chest
- ambiguous genitalia
- bicornuate uterus
- limb malformations with skeletal anrmalies

  • hypoplastic appendicular skeleton
  • post-axial hexadactyly of the right hand and the left foot
  • syndactyly of bilateral 2nd-3rd toes or 5th-6th toes
  • talipes varus
  • talipes valgus
  • fused vertebrae

- cardiac malformations

  • hypoplastic left heart
  • coronary sinus agenesis
  • ostium secundum and ostium primum defects
  • thickened septum primum

- hypolobated lungs
- renal oligopapillary hypoplasia
- total colonic Hirschsprung disease

- elevated ratio of 7-dehydrocholesterol and cholesterol
- excess of 7-dehydrocholesterol
- low cholesterol

See also

- Smith-Lemli-Opitz syndrome (SLOS)


- Rakheja D, Wilson GN, Rogers BB. Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. Pediatr Dev Pathol. 2003 May-Jun;6(3):270-7. PMID: 12717589