Hunter Macdonald Syndrome

Hey everyone, Sorry its been a while... This is something you may find very interesting

My best friend has a rare disease that causes a few abnormalities. This disease is called Hunter Macdonald Epiphyseal dysplasia, also known as The Hunter Macdonald Syndrome. This has quite a few symptoms listed below

Unusual face
Multiple epiphyseal dysplasia
Hearing loss
Congenital heart anomaly
Short stature
Premature hair loss
Bitemporal grooves
Flared nostrils
Underdeveloped midface
Short upper lip groove
Tall forehead
Droopy eyelids
Thin upper lip
Long neck
Pigeon chest
Hyperextensible joints
Partially dislocated thumbs
Partially dislocated elbows
Metatarsus adductus
Skewed fingers
Delayed bone age
Abnormal bone development
Mitral valve prolapse
Bicuspid aortic valve
Mild mitral regurgitation
Mild aortic regurgitation
Narrowed pulmonary valves
Impaired hearing
Disproportionate short stature
Congenital camptodactyly
Scoliosis
Epiphyseal dysplasia
Early osteoarthritis
Malformed feet
Bitemporal narrowing
Short eye slits
Reduced hearing acuity
Transient cranial nerve palsies
Congenital heart defects
Meningioma
Increased risk of brain tumor

My friend has quite a few of these which are below in red.

Unusual face
Multiple epiphyseal dysplasia
Hearing loss
Congenital heart anomaly
Short stature
Premature hair loss
Bitemporal grooves
Flared nostrils
Underdeveloped midface
Short upper lip groove
Tall forehead
Droopy eyelids
Thin upper lip
Long neck
Pigeon chest
Hyperextensible joints
Partially dislocated thumbs
Partially dislocated elbows
Metatarsus adductus
Skewed fingers
Delayed bone age
Abnormal bone development
Mitral valve prolapse
Bicuspid aortic valve
Mild mitral regurgitation
Mild aortic regurgitation
Narrowed pulmonary valves
Impaired hearing
Disproportionate short stature
Congenital camptodactyly
Scoliosis
Epiphyseal dysplasia
Early osteoarthritis
Malformed feet
Bitemporal narrowing
Short eye slits
Reduced hearing acuity
Transient cranial nerve palsies
Congenital heart defects
Meningioma
Increased risk of brain tumor

She is the youngest known person with this disease. Her mother and Uncle both have this. Her family is the only known in the USA with this disease. There is however a father and son in Canada who have this as well. Within the past 2 years they have gotten alot of information on this disorder. My friend is at the time 18 years old. Though there is mention of her on a website. She was 7 when the information was formed. She was diagnosed at that time as well. Though many may think that this is a hard life to live, which of course it is, She lives a happy life and does just about anything anyone else can do. There are however a few things that are harder for her to accomplish though she does not let that get her down. She is and will always be the strongest person I know.

Thanks to her approval I can let more people in this world know about this disorder and how it Affects her life. Though She does seem like a typical hyperactive teen like me, dont let that fool you, because this girl can change your life!!!