Cross-McKusick-Breen Syndrome, Oculocerebral Syndrome with Hypopigmentation, Cross Syndrome, Depigmentation-Gingival Fibromatosis-Microphthalmia or Kramer Syndrome is an extremely rare inherited disorder characterized by the lack of normal color of the skin and hair.
- The skin lacks melanin and as a result, is extremely sensitive to exposure to the sun.
- It is also associated with impaired vision, breathing difficulties, abnormalities of the urinary tract, growth deficiency, intellectual deficit, and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia etc.
The following can determine your susceptibility to Cross-McKusick-Breen Syndrome.
- This rare congenital disease is believed to be inherited as an autosomal recessive genetic trait.
- Having a family history of the condition
- Both parents are carriers of the condition even though they are asymptomatic.
- Closely related parents who are related to each other by blood.
Hypopigmentation,Microphthalmia,Nystagmus,Spastic paraplegia,Developmental delays,Mental retardation
Decreased skin or hair colour,Extremely sensitive to light,Slow, involuntary movements,Impaired coordination associated with voluntary movements,Head movement is beyond a normal range of motion,Increased muscle rigidity and stiff movement,Lack of leg and arm voluntary movements ,Abnormalities of the eye,One or both the eyes are abnormally small,Presence of cataracts in the eyes,Abnormally large gums. Gums may completely cover the teeth resulting in speaking, breathing, and swallowing problems
Treatment requires the coordinated efforts of a team of specialists like Paediatricians, dentists, ophthalmologists, neuro physicians and dermatologists,Surgery for enlarged gums,Corrective lenses for vision defects,Using high SPF sunscreen for skin sensitivity