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Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition, the distance between the inner eye corners, as well as the distance between the pupils, is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased, but the distances between the outer eye corners and the pupils remain unchanged.Michael L. Bentz: ''Pediatric Plastic Surgery''; Chapter 9 Hypertelorism by Renato Ocampo, Jr., MD/ John A. Persing, MD Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz syndrome. Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniofrontonasal Dysplasia
Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (''EFNB1''). Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males. Common physical malformations are: craniosynostosis of the coronal suture(s), orbital hypertelorism, bifid nasal tip, dry frizzy curled hair, longitudinal ridging and/or splitting of the nails, and facial asymmetry. The diagnosis CFND is determined by the presence of a mutation in the EFNB1 gene. Physical characteristics may play a supportive role in establishing the diagnosis. The treatment is always surgical and is based on each patients specific phenotypic presentation. Presentation Phenotypic expression varies greatly between individuals with CFND. Some of the more prominent characteristics are: * Craniosynostosis of the coronal suture( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LEOPARD Syndrome
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (''PTPN11''). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy. Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly common (1:1,000 to 1:2,500 live births), and neurofibromatosis 1 (which was once thought to be related to NSML) is also common (1:3500); however, no epidemiological data exists for NSML. Signs and symptoms An alternative name of the condition, LEOPARD syndrome, is a mnemonic, originally coined in 1969, as the conditi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Loeys–Dietz Syndrome
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment. It was previously believed that the life expectancy of an individual with this condition was around 30-40 years of age, however with progressive treatments such as possibilities for surgery and medications like losartan it is proven now that life expectancy can be full age with the correct medical attention and scans. There are five types of the syndrome, designated types I through V, caused by mu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Telecanthus
Telecanthus, or dystopia canthorum, refers to increased distance between the inner corners of the eyelids (medial canthi), while the inter-pupillary distance is normal. This is in contrast to hypertelorism, in which the distance between the whole eyes is increased. Telecanthus and hypertelorism are each associated with multiple congenital disorders. The distance between the inner corners of the Eyelid, eyelids is called the intercanthal distance. In most people, the intercanthal distance is equal to the width of each eye (the distance between the inner and outer corners of each eye). The average interpupillary distance is 60–62 millimeters (mm), which corresponds to an intercanthal distance of approximately 30–31 mm. ''Traumatic telecanthus'' refers to telecanthus resulting from traumatic injury to the nasal-Orbit (anatomy), orbital-Ethmoid bone, ethmoid (NOE) complex. The diagnosis of traumatic telecanthus requires a measurement in excess of those normative values. The path ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paul Tessier
Paul Tessier (August 1917 – June 6, 2008) was a French maxillofacial surgeon. He was considered the father of modern craniofacial surgery. Biography Born in Héric, Loire-Atlantique, Dr. Tessier first attended the Ecole de Médecine in Nantes, Loire-Atlantique, eventually receiving his Doctor of Medicine degree from the Faculté de Médecine de Paris in 1943. In 1942, during internship he started operating on people with cleft lip and cleft palate and Dupuytren's contracture. He joined the pediatric surgery service at Hospital St. Joseph in Paris in 1944. From late 1944 to 1946, he worked at the Center of Maxillofacial Surgery of the Military Region of Paris in Hospital Puteaux. In 1949, he returned to Nantes to become a surgical consultant in ophthalmology. Dr. Tessier started to improve surgical techniques to correct craniofacial deformations in the mid-1950s. He performed his first craniofacial operation in 1967. Throughout the 1960s and 1970s, he developed the follo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Andersen–Tawil Syndrome
Andersen–Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. The three predominant features of Andersen–Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an Electrocardiography, electrocardiogram (a long QT interval) and a tendency to Heart arrhythmia, abnormal heart rhythms, physical characteristics including low-set ears and a Micrognathism, small lower jaw, and intermittent periods of muscle weakness known as Hypokalemic periodic paralysis, hypokalaemic periodic paralysis. Andersen–Tawil syndrome is inherited in an autosomal dominant pattern. It is caused in most cases by a mutation in the Kir2.1, ''KCNJ2'' gene which encodes an ion channel that transports potassium out of cardiac muscle cells. The arrhythmias seen in the condition can be treated with flecainide or Beta blocker, beta-blockers, but an Implantable cardioverter- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wolf–Hirschhorn Syndrome
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 el(4)(p16.3) Features include a distinct craniofacial phenotype and intellectual disability. Signs and symptoms The most common characteristics include a distinct craniofacial phenotype ( microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness. Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal. Genetics Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Crouzon Syndrome
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. The syndrome is caused by a mutation in a gene on chromosome 10 that controls the body's production of fibroblast growth factor receptor 2 (''FGFR2''). Crouzon syndrome is named for Octave Crouzon, a French physician who first described this disorder. First called "craniofacial dysostosis" ("craniofacial" refers to the skull and face, and " dysostosis" refers to malformation of bone), the disorder was characterized by a number of clinical features which can be described by the rudimentary meanings of its former name. The developing fetus's skull and facial bones fuse early or are unable to expand. Thu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cri Du Chat Syndrome
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or " call of the cat") referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio. Signs and symptoms The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About one third of children lose the cry by age of 2 years. Other symptoms of cri du chat syndrome may include: * feeding problems because of difficulty in swallowing and sucking; * mutism; * low birth weight and poor growth; * severe cognitive, speech and motor disabilities; * behavioural problems such as hyperactivity, aggression, outbursts and repetitive movements; * unusual fac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Noonan Syndrome
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence is often normal. Complications of NS can include leukemia. Some of NS' symptoms are shared with Watson syndrome, a related genetic condition. A number of genetic mutations can result in Noonan syndrome. The condition may be inherited as an autosomal dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves sustained activation of the RAS/MAPK cell signaling pathway. The diagnosis may be suspected based on symptoms, medical imaging, and blood test ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DiGeorge Syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease. DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as ''22q11.2''. About 90% of cases occur due to a new mutation during early development, while 10% are inherited. It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. Diagnosis is suspected based on the symptoms and confirmed by genetic testing. Although there is no cure, treatment can improve symptoms. This often includes a multidisci ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paranasal Sinuses
Paranasal sinuses are a group of four paired air-filled spaces that surround the nasal cavity. The maxillary sinuses are located under the eyes; the frontal sinuses are above the eyes; the ethmoidal sinuses are between the eyes and the sphenoidal sinuses are behind the eyes. The sinuses are named for the facial bones and sphenoid bone in which they are located. Their role is disputed. Structure Humans possess four pairs of paranasal sinuses, divided into subgroups that are named according to the bones within which the sinuses lie. They are all innervated by branches of the trigeminal nerve (CN V). * The maxillary sinuses, the largest of the paranasal sinuses, are under the eyes, in the maxillary bones (open in the back of the semilunar hiatus of the nose). They are innervated by the maxillary nerve (CN V2). * The frontal sinuses, superior to the eyes, in the frontal bone, which forms the hard part of the forehead. They are innervated by the ophthalmic nerve (CN V1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
