Oculocerebral hypopigmentation syndrome, Cross type

Also known as: Cross syndrome

Definition

Orphanet

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Spasticity Muscle spasticity, Muscular spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Hyperreflexia Increased deep tendon reflexes, Increased reflexes Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Spastic tetraplegia Spastic quadriplegia Spastic paralysis affecting all four limbs.
Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
Dandy-Walker malformation Dandy-walker anomaly A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Abnormality of the urinary system Urinary tract abnormality An abnormality of the urinary system.
Athetosis Involuntary writhing movements, Athetoid movements A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally.
Hernia
Cataract Lens opacities, Lens opacity, Cloudy lens [more] A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Hypopigmentation of the skin Patchy lightened skin, Hypopigmentation, Skin hypopigmentation, Hypopigmented skin [more] A reduction of skin color related to a decrease in melanin production and deposition.
Tetraplegia Paralysis of all four limbs, Quadriplegia Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.

Other Classifiers and IDs