blepharophimosis,ptosis,epicanthus Inversus syndrome?

Question

I need information about the syndrome, I have a 11 month grandchild that was diagnosed with this disease and I need information about it. I found that its' a rare disease and there are under 1000 cases. PLEASE HELP IF YOU CAN.

Answer 1

You can write:
BPEI Family Network
SE 820 Meadow Vale Dr.
Pullman, WA 99163
Phone: [phone] USA
Or email: [e-mail]
WEBSITE:
http://freespace.virgin.net/andy.bowles/
They supply information and support to families affected with such disease.

Answer 2

I'm a RN who has taught Nursing for over 20 years so am somewhat familiar with medical terminology and can appreciate your difficulty trying to decipher all of the medical terms. Rather than a disease what you describe is a congenital syndrome that your grand baby has. I will start by defining the individual terms and then will try to put it into common English for you.
--blepharo = eyelids
--phimosis = horizontal narrowing of the palpebral fissure
--palpebral fissure = the opening between the upper and lower eyelids
--ptosis = drooping (of upper eyelid)
--epicanthus = a vertical fold of skin extending from the base of the nose to the median (central or inner) end of the eyebrow, covering the inner canthus (inner corner) of the eye. It is characteristic of certain ethnic groups and may occur as a congenital anomaly in others.
--inversus = to turn inward or inside out of an organ

This congenital abnormality of the eye involves the horizontal narrowing of the palpebral fissure which is the slit between the upper and lower eyelids. This abnormal narrowing is caused by the lateral or sideways displacement of the inner canthus or inner corner of the eye. In addition, an epicanthus or vertical fold of skin covers the inner corner of the eye and there is drooping of the upper eyelid. With the drooping of the upper eyelids at birth, the lids may droop only slightly or they may cover the pupils and block vision. Moderate or severe ptosis calls for medical treatment to permit normal vision development. Children with ptosis may tip their heads back into a chin-up position to see underneath the eyelids or raise their eyebrows in an attempt to lift up the lids. Congenital ptosis rarely improves with time. Treatment is usually surgery to tighten the eyelid -lifting muscles, the levators. Even after surgery, focusing problems can develop as the eyes grow and change shape. All children with ptosis, whether they have had surgery or not, should therefore be followed by an opthalmologist.

I hope that you will find this information helpful. God bless you and your grand baby.

Answer 3

www.familyvillage.wisc.edu/lib_blep.htm