About cross-mckusick-breen syndrome

What is cross-mckusick-breen syndrome?

Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain parts of the brain (oculocerebral). Physical findings at birth include unusually light skin color and silvery-gray hair. Abnormal findings associated with the central nervous system may include abnormal smallness of one or both eyes (microphthalmia); clouding (opacities) of the front, clear portion of the eye through which light passes (cornea); and/or rapid, involuntary eye movements (nystagmus). Additional symptoms that may develop during infancy include involuntary muscle contractions, associated loss of muscle function (spastic paraplegia), developmental delays, and/or mental retardation. Oculocerebral Syndrome with Hypopigmentation is believed to be inherited as an autosomal recessive genetic trait.

What are the symptoms for cross-mckusick-breen syndrome?

Spastic paraplegia symptom was found in the cross-mckusick-breen syndrome condition

If you have UCS, you're likely feeling some stress in your neck and shoulder area. Perhaps you’ve noticed that it's been getting worse with time. ‌You typically feel such stress while doing things that caused the imbalance in the first place.

You may have one or more of these particular symptoms: 

  • Frequent shifting while sitting, using the computer, or watching TV‌
  • Difficulty driving because of muscle tightness or pain‌
  • Lower back pain‌
  • Soreness around the shoulder blades‌
  • Tight or painful neck muscles 

What are the causes for cross-mckusick-breen syndrome?

Poor posture is the main driver of UCS. Researchers have long seen the syndrome among laundry workers and others whose work demands a lot of bending and twisting. 

‌But more frequently these days, people who are at risk for UCS are spending too much time hunched over a laptop or a smartphone. In fact, UCS has even come to be nicknamed “iHunch”.  

What are the treatments for cross-mckusick-breen syndrome?

If you think you have UCS, you should seek treatment. UCS will worsen and can lead to you having trouble breathing, spinal issues, and less range of motion than usual. Treating UCS with physical therapy (PT) has been proven to work. In one case, researchers had 30 university students with UCS go through PT, and they found that PT helped. Almost all of the students became better aligned and could move their upper shoulder muscles more easily.  

A doctor who thinks that PT will help make your weak muscles stronger and relax your tight muscles will give you a prescription for PT. You should take that prescription to a licensed physical therapist. That person will customize your exercises for your specific needs. 

These exercises progress in stages and can include:

  • Lying on large training balls to stretch and engage the back. ‌
  • Stretching the shoulders and arms with Thera-bands.‌
  • Weight training with both dumbbells and barbells. 

Typically, you would warm up and then do these and other types of UCS exercises in five sets of 10 repetitions or six sets of 15 repetitions. Your physical therapist will check your progress and help fix your form when necessary. You would cool down at the end of a session.

So UCS is serious but treatable. Like others who have gone through exercise programs for the condition, you may feel lasting improvement. Just be sure to follow the physical therapist’s guidance

What are the risk factors for cross-mckusick-breen syndrome?

  • Wearing shoes that offer no support.
  • leaning your head down to look at a book or screen
  • improper chair or desk height 
  • If you sit for long periods of time
  • ‌If you stand for long periods of time
  • ‌When in bed, do improperly support your neck and lower back
  • ‌You do not exercise the muscles around your neck, shoulders, and chest
  • You do not exercise the muscles of your core, your back and abdomen

Is there a cure/medications for cross-mckusick-breen syndrome?

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

Video related to cross-mckusick-breen syndrome