/ulnar hypoplasia-split foot syndrome

ulnar hypoplasia-split foot syndrome

Rare Disease

MONDO:0010750

Also Known As

Van den Berghe-Dequecker syndromeulnar hypoplasia-lobster-claw deformity of feet syndromeVan De Berghe Dequeker syndromecomplete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feetfamilial ulnar aplasia and lobster claw syndromesevere ulnar aplasia and lobster claw feetulnar hypoplasia lobster claw deformity of feetulnar hypoplasia with lobster-claw deformity of feet

Definition

Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.