Biemond Syndrome Ii

The features of this syndrome, which resembles the Bardet-Biedl syndrome (209900), are iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly. The 3 brothers described by Blumel and Kniker (1959) as having the Laurence-Moon-Bardet-Biedl syndrome may have had this condition. Hydrocephalus and hypospadias were also present. Irregular autosomal dominant inheritance is suggested by the segregation of iris coloboma for 4 generations in the family reported by Grebe (1953) and by the occurrence of postaxial polydactyly of the toes in the father and a paternal aunt of the sibs described by Blumel and Kniker (1959).

Verloes et al. (1997) proposed a new nosology for the so-called Biemond syndrome type 2 (BS2). They suggested that purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome (see 209901) with fortuitous coloboma or aniridia; (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report; (3) a 'new' dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation (601794), which Verloes et al. (1997) described in their report; (4) a cytogenetically proven Rubinstein-Taybi syndrome (180849) in 1 case; (5) an unclassifiable, early lethal familial syndrome resembling Buntinx-Majewski syndrome (see 249620); and (6) a 'new' coloboma-zygodactyly-clefting syndrome. A chromosomal anomaly was suspected in the last 2 syndromes.