Weyers Ulnar Ray/oligodactyly Syndrome

Clinical Features

Weyers ulnar ray/oligodactyly syndrome is characterized by variable ulnar, radial, or fibular ray reduction, single central incisor, and renal, splenic, or cardiac anomalies. The original report (Weyers, 1957) described 2 sporadic cases. Elejalde et al. (1985) reported a family with 2 affected sibs with successful prenatal diagnosis accomplished in the second child by detection of abnormal fibulas and ulnas and hydronephrosis. Turnpenny et al. (1992) described similarly affected individuals in 2 generations and noted the occurrence of a single central incisor and hypotelorism as features. The affected members included the female proband, her sister, and the sister's son. The proband had bilateral radial ray deficiency and a single central incisor whereas her nephew had bilateral ulnar ray deficiency. The mother of the affected nephew had hypotelorism only. None of the affected individuals had evidence of splenic or renal involvement. Both parents of the proband were examined and found to be normal. The cases described by Lausecker (1954) and Blockey and Lawrie (1963) seem similar to that of Turnpenny et al. (1992) as they had no evidence of visceral anomalies.

Turnpenny et al. (1992) reviewed syndromes that included ulnar ray reduction. The disorders described originally by de la Chapelle et al. (1972) and reviewed by Whitley et al. (1986) (256050) and Saito et al. (1989) (228940) are similar to Weyers ulnar ray/oligodactyly syndrome.

Inheritance

If this is a single disorder, it is most likely inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. This conclusion is based on the case of Turnpenny et al. (1992) as both cases reported by Weyers (1957) were sporadic. Although Elejalde et al. (1985) reported 2 affected (male and female) sibs, no search for anomalies in the parents was described.

Nomenclature

Confusion has been generated by the use of the Weyers eponym with several disorders, including Weyers acrofacial dysostosis (Curry-Hall syndrome; 193530). The use of the term Weyers syndrome (without further qualification) should be discontinued for this reason.