This syndrome has been described in 3 patients only: a male and female sib pair of Sikh origin and a male offspring of first-cousin Pakistani Muslims. All 3 patients died in infancy and had in common a combination of Hirschsprung disease (megacolon with aganglionosis), hypoplastic nails, and minor dysmorphic facial features, including micrognathism, low-set malformed ears and anteverted nostrils. In 1 male infant, bilateral hydronephrosis was detected on routine ultrasound in midtrimester, and imperforate anus was noted at birth. Posterior urethral valves and left inguinal hernia were also present in this infant. It is probably an autosomal recessive condition.
Last update: April 2003
- Dr Elisabeth ROBERT-GNANSIA