Extremely rare inherited disorder that may be apparent
at birth (congenital) or during early infancy. It is characterized by
hypopigmentation of the skin, silvery-gray hair, and abnormalities of the
central nervous system that affect the eyes (microphthalmia) and the
oculocerebral functional areas.
Cross Syndrome; Kramer Syndrome; Depigmentation-Gingival
Believed to be inherited as an
autosomal recessive genetic trait. Affects males and females equally.
However, fewer than 15 cases have been reported in the medical literature.
Most of the observed cases occurred within families.
Abnormally small eyes, lack of skin and characteristic hair
color are usually congenital and therefore apparent at birth. The skin is
usually very light and may be extremely sensitive to exposure to the sun.
The hair is often silvery or silvery-gray at birth. In addition, infants may
be abnormally sensitive to light (photosensitivity). Later during infancy,
neurologic abnormalities (e.g., athetoid movements, ataxia, movement of the
head beyond the normal range of motion [hyperextension], and increased
muscle rigidity or spasticity) may become apparent after age 3 months. In
more severe cases, children may experience lack of voluntary movements of
the arms and legs (spastic tetraplegia). Other neurologic symptoms may
include exaggerated reflexes and/or joint immobility. The legs, arms,
shoulders, and hips are most often involved. Affected individuals may have a
high-pitched cry or make constant sucking sounds. Patients may exhibit
mental retardation and growth retardation, and psychomotor development is
often delayed (e.g., holding up the head, sitting, walking). Infants may
present severe microphthalmia (unilateral or bilateral) associated with
microcornea. The presence of corneal opacity, glaucoma, and horizontal nystagmus can be
noted. Ectropion palpebral conjunctivae, cataracts, and optic nerve atrophy
have been reported. Such eye abnormalities may result in varying degrees of
visual impairment or blindness. Some affected infants exhibit gingival
fibromatosis when the first teeth emerge at age 6 months to 3 years. Other
symptoms (e.g., developmental delays, mental retardation) may become
apparent later during infancy or childhood.
No specific anesthetic considerations or
implications with this syndrome, except in the presence of open glaucoma.
Chediak-Higashi Syndrome: Rare inherited disorder
characterized by oculocutaneous albinism, visual difficulties, and immune
system deficiencies. The hair is typically blond or light brown with a
silvery tint. Affected infants may exhibit photosensitivity, nystagmus, and
ataxia. It is inherited as an autosomal recessive genetic trait.
Hermansky-Pudlak Syndrome (HPS): Rare inherited disorder
characterized by albinism, platelet dysfunction with prolonged bleeding
time, visual impairment, and abnormal storage of a fatty-like substance in
various tissues of the body. The skin, hair, and eyes may vary in color from
very pale to almost normal coloring. Other symptoms include easy bruising,
bleeding gingivae, and excessive bleeding after surgery or trauma. It is
inherited as an autosomal recessive genetic trait.
Albinism: Group of rare inherited disorders characterized by
hypopigmentation or complete depigmentation of the skin, hair, and eyes at
birth. Patients manifest severe ...