Klippel-feil syndrome information.... hope this helps

Klippel-Feil syndrome is a rare disorder charterized by congenital fusion of any 2 of the 7 vertebra of the neck.
Most common signs are:
-Short neck
-low hairline at the back of the head
-restricted mobility of the upper spine
There are also associated abnormalities
- Scoliosis
-Spina bifida
-Anomalies of the kidneys
-anomalies of the ribs
-cleft palette
-respiratory problems
-heart malformations
-abnormalities of the head and face
-abnormalities of the skeleton and sex organs
-abnormalities of the muscles, brain, spinal cord, arms, legs, and fingers

Klippel feil syndrome is due to a mutation on the long arm of chromosome 8 at 8Q22.2 and its inherited as a Autosomal dominate disorder with limited penetrance.  The Klippel-Fiel malformation is an Autosomal recessive disorder with mutaion on 5q11.2.2. C5-C6 fusion is more likly to be an autosomal recessive disorder.

There are classification types just as there are with anything, and Klippel-Feil has three types.

Type 1: is a massive fusion of many cervical and upper thoracic vertebra into bony blocks.

Type 2: is a fusion at only one or two inter-spaces, although hemivertebra, occipito-atlantal fusion and other anomalies might also occur.

Type 3: is both a cervical fusion and lower thoracic or lumbar fusion.

With type 1 patients the fusion is usually a single congenitally fused section.
Type 2 have multiple noncontiguous congenitally fused sections.
Type 3 patents have multiple contiguous congenitally fused sections.

36% of patents have shown cervical spin related symptoms and the majority had axial symptoms. Axial neck symptoms were highly associated with type 1 patents, whereas predominant radicular and myelopathic symptoms occurred in type 2 and type 3 patents.

20% have neurological problems that may be produced by hypermobility, and some present with pain
.
Scoliosis may be congenital or acquired and affects around 60%

Synkinesia is mirror movement of the upper extremity in witch patients are unable to preform a movement with the right hand without the left hand making the same movement, though disabling in regards to everyday activities therapy and age will help this
.
1\3 of reported cases have shown many and varied abnormalities of the retinal system.

1\4 to 1\2 suffer from Torticallis and facial asymmetry with possible Craniofacial anomalies
.
A study showed deafness in 35 out of 44 reported cases, deafness can also be sensorineural, conductive or mixed, that's about 80%.

Cardiovascular anomalies occur in 15 to 30% of reported cases, with the most common, ventricular septal defects.

It has been thought to be caused by fetal alcohol syndrome.

High cervical abnormalities can cause acute spinal compression following any comparatively minor trauma.

Investigation:
The extent of investigation will depend on the age of the patent when it presents itself, the nature of the problem as well as other confounding issues.anteroposterior and lateral views of the cervical spine are basic, if abnormalities are present, careful assessment of the atlanto-occipital joint is required. Other tests that may preform include, chest x-ray, ct scan, MRI scan, ultrasound, intravenous pyelogram (IVP),and hearing tests.
Though from experance, Klippel-Feil syndrome can be over looked or confused for something ells due to its symptoms. Keep pushing and make sure you go for a scan before its ruled out. You know yourself the best and its easier if you know what your dealing with.

Surgery is use only to stabilize the neck, or to relive compression on the spinal cord. They will often refuse different area's as reinforcements for the head, I was told i would not be able to move my head at all or drive without special mirrors so i decided not to, that was at 12 and I'm 27 now so lets hope they are better now.

So with Klippel- Feil syndrome you may deal with any of the following symptoms or disorders:
Kidney Infections, Cranial Nerve Palsy, Cervical Nerve Palsy, Synkinesia, mental deficiency, Sprengel Anomaly, Posterior Fossa, Dermiod Cyst's.

And the following complications:
Paraplegia, Hemiplegia, Degenerative Disk Disease, Hearing Loss, Nystagmus, Spinal Deformity, neck stiffness, Hemiparesis, Torticollis.

I hope this helps and i know there are a lot of medical terms in here but you can copy and paste them in the search engine and find out what they involve. i have done pulled this together from online searches on the subject some of my % may have changed due to population increase but i do hope this helps you guys get direction in your doctors or point you in the right direction.

It's been 27 years and for 10 years i new something was wrong, then for the last five i know what its been and all in all i can say I'm alive, happy, driven, and i never sweat the small stuff. But it is a pain to feel ignored.