A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

Hypoplasia (congenital reduction in size) of the thumb.

Bending or curvature of a thumb towards the ulnar side (towards the ring finger).

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.

Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).

A reduction in the number of circulating thrombocytes.

Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.

Developmental hypoplasia of the mandible.

An abnormality in which the mandible is mislocalised posteriorly.

An abnormal osseous union (fusion) between the radius and the ulna.

Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.