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What gene or chromosome is affected by Crouzon Syndrome disorder?
Wiki User
∙ 11y ago
unfortunatly, i dont know sry. im trying to look it up
Wiki User
∙ 11y ago
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What syndrome does liza minelli have?
Crouzon syndrome
What disease does Shane dawson have?
I believe he has Crouzon Syndrome.
When was Octave Crouzon born?
Octave Crouzon was born in 1874.
When did Octave Crouzon die?
Octave Crouzon died in 1938.
What has the author Ernest I Fedun written?
Ernest I. Fedun is known for his work "The Bridge of Fire", a novel that explores themes of survival and resilience during the Second World War. He has also written various articles on historical events and conflict.
What disease does Brian Peppers have?
he has AIDS no seriously he has a gentic disease that is very rare called "Apert's Disease" or "Crouzon Disease" in other words its basically a deformity problly from his mom smoking crack/cocaine or other risk behaviors
Apert syndrome?
DefinitionApert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face.Alternative NamesAcrocephalosyndactylyCauses, incidence, and risk factorsApert syndrome can be passed down through families (inherited). The syndrome is inherited as an autosomal dominant trait, which means that only one parent needs to pass on the faulty gene for a child to have the condition.Some cases may occur without a known family history.Apert syndrome is caused by mutations in a gene called fibroblast growth factor receptor 2. This gene defect causes some of the bony sutures of the skull to close too early, a condition called craniosynostosis.People with Apert syndrome have a distinctive looking face, and there may be full-length webbing or fusion between the 2nd, 3rd, and 4th fingers, as well as the toes. As the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function.Several other syndromes that include craniosynostosis can lead to a similar appearance of the face and head, but do not include the severe hand and foot problems of Apert syndrome. These similar syndromes include:Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)Crouzon disease (craniofacial dysostosis)Pfeiffer syndromeSaethre-Chotzen syndromeSymptomsEarly closure of sutures between bones of the skull, noted by ridging along suturesFrequent ear infectionsFusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"Hearing lossLarge or late-closing soft spot on a baby's skullPossible, slow intellectual development (varies from person to person)Prominent or bulging eyesSevere under-development of the mid-faceSkeletal (limb) abnormalitiesShort heightWebbing or fusion of the toesSigns and testsA skull x-rayand physical exam can confirm the diagnosis of craniosynostosis.Hand or foot x-rays are also very important to determine the extent of bone problems.A genetic test for mutations in the fibroblast growth factor receptor 2 gene can confirm the diagnosis of Apert syndrome. Hearing tests should also always be performed.TreatmentThe patient should be evaluated by a multispecialty cranio-facial surgery team at a children's medical center. Treatment consists of surgery to correct abnormal bone growth of the skull, mid-face, and jaw area.A hearing specialist should be consulted if there are hearing problems.Support GroupsChildren's Craniofacial Association -- www.ccakids.comExpectations (prognosis)What to expect will vary from child to child.ComplicationsOther birth defects may exist. Each child should be evaluated on an individual basis.Calling your health care providerCall your health care provider if you have a family history of Apert syndrome or you notice your baby's skull is not developing normally.PreventionGenetic counseling may be of value to prospective parents. Prenatal diagnosis is available.ReferencesKinsman SL, Johnston MV. Congenital Anomalies of the Central Nervous System. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 592.
Prognathism?
DefinitionPrognathism is an extension or bulging out (protrusion) of the lower jaw (mandible) that occurs when the shape of the face bones cause the teeth to be improperly lined up (misaligned).Alternative NamesExtended chinConsiderationsPrognathism may cause malocclusion (misalignment of the biting surfaces of the upper and lower teeth), giving some people an angry, or fighter's, appearance. Prognathism may be a symptom of various syndromes or conditions.Common CausesAn extended (protruding) jaw can be part of the normal facial shape a person is born with.It can also be caused by inherited conditions such as Crouzon syndrome or basal cell nevus syndrome.It may develop over time in children or adults as the result of conditions such as gigantism or acromegaly.Home CareIt is appropriate to see a dentist or orthodontist to treat abnormal alignment of the jaw and teeth. However, your primary health care provider should also be involved to check for any underlying medical disorders that can be associated with prognathism.Call your health care provider ifThere is difficulty talking, biting, or chewing related to the abnormal jaw alignment.You have concerns about jaw alignmentWhat to expect at your health care provider's officeThe health care provider will perform a physical examination and ask questions regarding the patient's medical history. Questions may include:Is there any family history of an unusual jaw shape?Is there difficulty talking, biting, or chewing?What other symptoms do you have?Diagnostic tests may include:Skull x-rayDental x-raysImprints of the bite (a plaster mold is made of the teeth)
Craniofacial reconstruction - series?
Normal anatomyThere are four major bones of the face: the maxilla, the zygoma, the mandible, and the frontal bone of the cranium.IndicationsPatients requiring craniofacial reconstruction have:birth defects (such as hypertelorism, Crouzon's disease, Apert's syndrome)injuries to the head, face, or jaws (maxillofacial)tumorsdeformities caused by treatments of tumorsProcedureWhile the patient is deep asleep and pain-free (under general anesthesia) some of the facial bones are cut and repositioned into a more normal facial structure. The procedure may take from four to 14 hours to complete. Pieces of bone (bone grafts) may be taken from the pelvis, ribs, or skull to fill in the spaces where bones of the face and head have been moved. Small metal screws and plates are sometimes be used to hold the bones in place and the jaw may be wired together to hold the new bone positions in place. If the surgery is expected to cause significant swelling of the face, mouth, or neck, the patient's airway may be an area of major concern. The airway tube (endotracheal tube) normally used for long surgical procedures under general anesthesia may be replaced with an opening and tube directly into the airway (trachea) in the neck (tracheotomy).AftercareDepending on the extent of surgery and how the patient is breathing, the first two days after surgery may be spent in the intensive care unit. Without complications, most patients are able to leave the hospital within one week. Complete healing may take up to six weeks.Reviewed ByReview Date: 05/06/2011Shabir Bhimji, MD, PhD, Specializing in General Surgery, Cardiothoracic and Vascular Surgery, Midland, TX. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Craniosynostosis?
DefinitionCraniosynostosis is a congenital (present at birth) defect that causes one or more sutures on a baby's head to close earlier than normal. Sutures are connections that separate each individual skull bones. The early closing of a suture leads to an abnormally shaped head.Alternative NamesPremature closure of suturesCauses, incidence, and risk factorsThe cause of craniosynostosis is unknown. Which suture is involved determines the abnormal shape of the head.A person's genes may play a role in craniosynostosis. The hereditary form often occurs with other defects that can cause seizures, diminished intellectual capacity, and blindness. Genetic disorders commonly associated with craniosynostosis include Crouzon, Apert, Carpenter, Chotzen, and Pfeiffer syndromes.However, most cases of craniosynostosis occur in a family with no history of the condition and children with craniosynostosis are otherwise healthy and have normal intelligence.There are different types of craniosynostosis. Sagittal synostosis (scaphocephaly) is the most common type. It affects the main (sagittal) suture on the very top of the head. The early closing forces the head to grow long and narrow, instead of wide. Babies with this type of craniosynostosis tend to have a broad forehead. It is more common in boys than girls.Frontal plagiocephaly is the next most common form. It is the closure of one side of the suture that runs from ear to ear on the top of the head. It is more common in girls.Metopic synostosis is a rare form of craniosynostosis that affects the suture close to the forehead. The child's head shape may be described as trigonocephaly, and the deformity may range from mild to severe.SymptomsAbsence of the normal feeling of a "soft spot" (fontanelle) on the newborn's skullDisappearance of the fontanelle earlyA raised hard ridge along the affected suturesUnusual head shapeSlow or no increase in the head size over time as the baby growsSigns and testsThe doctor will feel the infants head and perform a physical exam. A neurological exam would also help diagnose the condition. The following tests may be performed:Measuring the width of the infant's headX-rays of the skullCT scan of the headTreatmentThe main treatment for craniosynostosis is surgery. Surgery is done while the baby is still an infant. The goals of surgery are:Relieve any pressure on the brainMake sure there is enough room in the skull to allow the brain to properly growImprove the appearance of the child's headExpectations (prognosis)How well a person does depends on how many sutures are involved and whether other defects are present. Patients who have surgery usually do well, especially those whose condition is not association with a genetic syndrome.ComplicationsCraniosynostosis results in head deformity that can be severe and permanent if it is not corrected. Increased intracranial pressure, seizures, and developmental delay can occur.Calling your health care providerCall your health care provider if you think your child's head has an unusual shape. A referral to a pediatric neurologist or neurosurgeon should follow.PreventionBe sure to bring your child to well-child visits, so your pediatrician can routinely chart the growth of your infant's head over time. This will help identify the problem early if it occurs.Persons with hereditary craniosynostosis might consider genetic counseling.ReferencesKinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 592.Ridgway EB. Skull deformities. Pediatr Clin North Am. 2004; 51(2): 359-87.
