Umbilicus, Familial Flat

Clinical Features

Leung and McLeod (2004) described a Chinese family in which 5 members in 3 successive generations had a flat umbilicus. Except for the 12-year-old male proband in the last generation, who also had tetralogy of Fallot, all affected members had a flat umbilicus as an isolated anomaly. At birth the umbilicus and the umbilical cord looked normal and there was nothing unusual about the loss of the umbilical cord. The proband's umbilicus measured 2.5 cm in diameter at the time of report and was represented by a flat whitish scar. The surrounding cushion and the mamelon were inapparent. The configuration of the umbilicus in other affected members was similar to that of the proband. Leung and McLeod (2004) noted that hypoplastic nipples and hypoplastic umbilicus are present in 50% of patients with Cornelia de Lange syndrome (122470) (Jones, 1997) and that a protruding or prominent umbilicus or a flat umbilicus could be a feature of Aarskog syndrome (305400) (Tsukahara and Fernandez, 1994).

Inheritance

Male-to-male transmission occurred in the family reported reported by Leung and McLeod (2004), suggesting autosomal dominant inheritance.