Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) is sometimes present, as are other eye problems that can affect vision such as detached retinas. About one-quarter of people with this condition have mild to moderate hearing loss. Causes
Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. Management
There is no treatment for the underlying condition. Supportive/symptomatic treatment is based on the traits present in each person with the condition. Notable people
Michael Dunn, American actor, Tony winner, Wild Wild West, Star Trek
Warwick Davis, English actor and TV presenter

References
Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6

Further reading
GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda
OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda


== External links ==
Radiation proctitis or radiation proctopathy is condition characterized by damage to the rectum after exposure to x-rays or other ionizing radiation as a part of radiation therapy. Radiation proctopathy may occur as acute inflammation called "acute radiation proctitis" (and the related radiation colitis) or with chronic changes characterized by radiation associated vascular ectasiae (RAVE) and chronic radiation proctopathy. Radiation proctitis most commonly occurs after pelvic radiation treatment for cancers such as cervical cancer, prostate cancer, bladder cancer, and rectal cancer. RAVE and chronic radiation proctopathy involves the lower intestine, primarily the sigmoid colon and the rectum, and was previously called chronic radiation proctitis, pelvic radiation disease and radiation enteropathy. Signs and symptoms
Acute radiation proctopathy often causes pelvic pain, diarrhea, urgency, and the urge to defecate despite having an empty colon (tenesmus). Hematochezia and fecal incontinence may occur, but are less common. Chronic radiation damage to the rectum (>3 months) may cause rectal bleeding, incontinence, or a change in bowel habits secondary. Severe cases may lead to with strictures or fistulae formation. Chronic radiation proctopathy can present at a median time of 8-12 months following radiation therapy. Histopathology
Acute radiation proctopathy occurs due to direct damage of the lining (epithelium) of the colon. Rectal biopsies of acute radiation proctopathy show superficial depletion of epithelial cells and acute inflammatory cells located in the lamina propria. By contrast, rectal biopsies of RAVE and chronic radiation proctopathy demonstrates ischemic endarteritis of the submucosal arterioles, submucosal fibrosis, and neovascularization.