Cleidocranial dysplasia (CCD) is a raregenetic disorderthat affects the development of the bones, skull, andteeth. The bones in people with CCD might be formed differently or maybe more fragile than usual. In some cases, the collar bone may be absent.
Cleido refers to the collar bone, and cranial refers to the skull; thus, cleidocranial refers to skull abnormalities. Some typical features of this condition in different areas include:
Skull and face:
- Delayed maturation of the skull
- Soft spots on the head that don’t harden
- Delayed closing of growth lines where the bones of the skull meet
- Flatfeet
- Scoliosis(abnormal curvature of the spine)
- Brachycephaly (wide and short skull)
- Prominent forehead
- Wide-set eyes
- Flat nose
- Small upper jaw
- Short shoulder blades
- Depressedbridgeof the nose
- Wormian bones (an extra bone that can occur within a joint of the skull)
- High-arched hard palate
- Hearing loss
- Recurrent sinus andear infections
- Delayed loss of thebaby teeth
- Delayed appearance of adult teeth
- Unusually shaped teeth
- Misalignment of the teeth and jaws
- Abnormal tooth enamel
- Crowded teeth
- Supernumerary (extra) teeth
- Thin tooth enamel leading tocavities
Other features:
- Recurrentfractures
- Sleep apnea(snoring)
- Average intelligence
- Narrow chest
- Breathingdifficulties
- Hunch back
- Poor fingernail or toenail formation
- Extra or missing ribs
- Shorter than average
- Short, tapered fingers and broad thumb
- Knock knees (a condition in which the knee bend inward towards the center of the body)
- 在骨盆骨复杂畸形conception
- Osteopenia(decreasedbone density)
- Narrow and sloping shoulder
- Slow development of motor skills, such as crawling andwalking
- Fluid-filledcystin the spinal cord
What causes cleidocranial dysplasia?
Cleidocranial dysplasia is caused due to mutations in the RUNX2 gene. This gene is responsible for the production of a protein that is involved in the development of the skeletal system. The RUNX2 gene mutations interfere with the development of bone, teeth, and cartilage. The condition is autosomal dominant. There is a 50% chance that the child will suffer from the disease if one parent has the disease. Sometimes, there may be a spontaneous mutation and the child may show signs of the disease though parents are normal.
What is the treatment for cleidocranial dysplasia?
Treatment depends on the individual’s symptoms. The individual has to undergo numerous reconstructive surgery and dental procedures for functional well-being. Treatment includes:
- Facial reconstructive surgery to reshape the forehead and cheekbones in children
- Spinal fusionprocedures to strengthen the spinal cord
- Surgical repair of fractures due to weak bones
- Surgical removal of small collar bone pieces affecting the network of nerves (brachial plexus). This can relieve thepainin the arm and nerve disorders due to compression.
- Surgery to correct knock knees
- Ear tubesto treatear infection
- Calcium andVitamin Dsupplementsto strengthen the bone
- Oral surgery to correct extra teeth
- Jaw surgery to correct jaws
As a precaution, wear a helmet while playing sports to prevent thehead injury.
SLIDESHOW
The 14 Most Common Causes of FatigueSee Slideshowhttps://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia
https://www.hopkinsmedicine.org/health/conditions-and-diseases/cleidocranial-dysplasia-ccd
Top What Is Cleidocranial Dysplasia? Related Articles
Broken Bones
Broken bones are a common type of injury. Bones are some of the hardest tissues in the body, but they can break when they are stressed. Osteoporosis and cancer may cause bone fractures. The broken bone needs immediate medical treatment.
Common Medical Abbreviations & Terms
Doctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition, prescription drugs they are to take, or medical procedures that have been ordered. There is no approved this list of common medical abbreviations, acronyms, and terminology used by doctors and other health- care professionals. You can use this list of medical abbreviations and acronyms written by our doctors the next time you can't understand what is on your prescription package, blood test results, or medical procedure orders. Examples include:
- ANED: Alive no evidence of disease. The patient arrived in the ER alive with no evidence of disease.
- ARF: Acute renal (kidney) failure
- cap: Capsule.
- CPAP: Continuous positive airway pressure. A treatment for sleep apnea.
- DJD: Degenerative joint disease. Another term for osteoarthritis.
- DM: Diabetes mellitus. Type 1 and type 2 diabetes
- HA: Headache
- IBD: Inflammatory bowel disease. A name for two disorders of the gastrointestinal (BI) tract, Crohn's disease and ulcerative colitis
- JT: Joint
- N/V: Nausea or vomiting.
- 订单:口服。摇来摇去m the Latin terminology per os.
- q.i.d.: Four times daily. As in taking a medicine four times daily.
- 类风湿性关节炎:类风湿性关节炎
- SOB: Shortness of breath.
- T: Temperature. Temperature is recorded as part of the physical examination. It is one of the "vital signs."
Super Foods for Your Bones
What sweetener is loaded with calcium? These bone-building super foods can help stave off osteoporosis, and many of them will surprise you.