Rutledge multiple congenital anomaly syndrome

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

Synopsis

 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)

References

 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