Older children and adults with Williams syndrome may develop progressive joint problems that limit their range of motion. Infants with Williams syndrome who have elevated levels of calcium in their blood may be placed on a diet that restricts the intake of vitamin D. Calcium intake may also be restricted. For example, someone born without a gene called ELN will have heart and blood vessel problems. Dev Neuropsychol. Pop culture obsessives writing for the pop culture obsessed. Williams Syndrome Famous People is a rare genetic condition that causes mild to moderate intellectual disability and also unique personality traits. Shes old enough to have fallen in love, however, and has formed a romantic relationship with fellow choir member Martin (Alexandre Landry), to the intense disapproval of Martins overprotective mother (Marie Gignac). Talkative and curious, these sorts of people may go too far in their conversations and social activities - they may be too outgoing and talkative for other people. Physical Appearance Or Personality? How to Watch Channel 7 & 10 Play Australia from Overseas. They tend to speak and read well, and often have musical talent. Williams syndrome: an historical perspective of its evolution, natural history, and etiology. In some cases, it may not be diagnosed until the child starts school. Williams syndrome, which is a rare neurodevelopmental disorder ", With such empathy comes a lack of fear. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems. What Is Your Defined Idea Of Beauty? Phone: 202-588-5700. In addition, most affected individuals have mild to moderate mental retardation; poor visual-motor integration skills; a friendly, outgoing, talkative manner of speech; a short attention span; and are easily distracted. We believe that: Join us in spreading awareness and raising funds for the WSA. Symptoms may vary depending on environmental factors and typically worsen when sustained attention is required. Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, mild mental retardation, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings. The appropriate use of language and vocabulary range may be unusually enhanced in some children with this disorder. Featuring successful actors, Hollywood celebs, and more, this list of celebrity autistic people includes Daryl Hannah, Andy Kaufman, and more. Such conditions cause many adults with Williams to survive only into their 50s. 2002;21:50-6. Aspergers syndrome is a disorder that falls on the autism spectrum. The development of secondary sexual characteristics (e.g., pubic hair and underarm hair) may occur prematurely (precocious puberty) in children with this disorder. Families of affected individuals encounter major struggles. debilitating characteristics of Williams Syndrome include Williams confirmed her pregnancy during a red carpet interview and also on Instagram. It is the type of personality seen only occasionally beyond the world of Williams Syndrome. This disorder has its good points and bad points, but it can be defined by peculiar enhancements of regular social skills, coupled with a distinctive, "elf-like" face and body. Linear growth may be delayed during the first four years of life. In Australia, some states have specific support groups for people with Williams syndrome, their families and carers. Some scientists have said people with the condition look a bit like Mick Jagger, and have shown curiosity as to whether he may have a lesser form of the disorder. Williams Syndrome Famous People is a rare genetic condition that can cause distinctive facial features, intellectual disabilities, and cardiovascular problems. They sometimes have trouble learning. Symptoms of the following disorders can be similar to those of Williams Syndrome. We may earn a commission from links on this page. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Symptoms may include loss of appetite (anorexia), irritability, confusion, weakness, easy fatigability, and/or abdominal and muscle pain. Here are some related questions which you might be interested in reading. Stanford Childrens Health is known as a national and international leader in treating Williams syndrome, seeing children from around the world and treating some of the most complex cases. People with the syndrome may be overly friendly, even to strangers. Most people with Guillain barre syndrome is an autoimmune disorder which is characterized by weakness and numbness in Are There Any Famous People With Williams Syndrome? An electrocardiogram (EKG) or ultrasound can check for heart problems. 560 Kirts Blvd. WebWilliams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. Some children with Williams Syndrome who have severe heart defects may require surgical treatment to repair the defect. Why Do I Go Into Violent Rages And Want To Hurt My Husband For Cheating? The WSA upholds the following positions on inclusion. May 01, 2008 Jones KL. Children with Williams syndrome typically have a personality that is friendly, outgoing, and/or talkative. However, some familial cases of the disorder have also been reported. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth. Do Not Sell or Share My Personal Information. They pet it. Of about 7,500 newborns, only one will have it. Some affected infants may have elevated levels of calcium in their blood (hypercalcemia), leading to loss of appetite, irritability, confusion, weakness, easy fatigability, and/or abdominal and muscle pain. Additional features may include a vertical skin fold on the inner corners of the eyes (epicanthal folds), a small pointed chin, prominent ears, and/or an unusually long vertical groove in the center of the upper lip (philtrum). Have fun and I know the game will be good! Leahs enthusiasm is working; the Eagles are 19 8 this season! Call us for more information: (844) 988-6220, 2023 Stanford Medicine Children's Health, Cardiovascular Connective Tissue Overview, Familial Thoracic Aortic Aneurysm and Dissection Syndrome (Familial TAAD), Non-Syndromic Supravalvar Aortic Stenosis (SVAS)/Elastin Arteriopathy Syndrome, Betty Irene Moore Childrens Heart Center, 2023 Stanford MEDICINE Children's Health. Specialized tests may be performed to determine the severity and exact location of congenital heart defects (i.e., EKG, echocardiogram, or cardiac catheterization). Williams syndrome is usually diagnosed before a child is 4 years old. Buyse ML. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. Chris has Williams Syndrome (WS), a rare genetic disorder affecting around one in 18,000 people in Britain. Music therapy has been advocated, thought not proven, as providing enhanced learning and relief from anxiety in individuals with Williams syndrome. We believe that: Join us in spreading awareness and raising funds for the WSA. This home outdoor projector supports a 50-250" projection size, allowing you to enjoy the joy of a large screen whether indoors or outdoors. 248.244.2230 fax. In most individuals with Williams syndrome, the disorder appears to occur spontaneously for unknown reasons (sporadically). In case you hadnt noticed, LGBT+ people are currently in the midst of being targeted by an all-out moral panic. Parents often say the joy and perspective a child with WS brings into their liveshad been unimaginable, and their special personalities and perseverance help make dreams come true. Individuals with Williams syndrome will not have all the symptoms listed below. 1988;63:809-813. These can include heart and blood Halfway through the film, its pretty clear what the answer to both of these questions will be, and Gabrielle turns out to be the kind of triumphalist entertainment in which theyre answered almost simultaneously in the last scene, allowing for a final fade-out on Marion-Rivards beaming face. The aorta is the main artery of the vascular system. people in Hollywood who have openly admitted to a diagnosis of Copyright 2023 Williams Syndrome Association |. WebMD does not provide medical advice, diagnosis or treatment. Will the choirs big public performance with real-life Qubcois singer Robert Charlebois be a huge success? When Williams announced her retirement from professional tennis in August 2022, she revealed that she was leaving tennis to focus on growing her family. Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Each chromosome has a short arm designated p and a long arm designated q. "He had his heart surgery when he was a baby," Self told "20/20." Saunders Co; 1996: 160. Williams syndrome is a genetic disorder. Its caused by having 26-28 genes missing from chromosome 7. In most cases, this happens by chance while the eggs or sperm are being formed in the parents bodies before conception. People living with Williams syndrome have a small chance of passing it on to their children. The story is set on Earth near the end of the 21st century, probably between 2082 and 2089, in a world where technology has advanced somewhat beyond the present. In many runs the lab recorded, the typically-developing child just watched and expressed no empathy or concern. WebResources and support. 1998;52:8-9. As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge. Mild to moderate mental retardation may occur. Meyer-Lindenberg A, Mervis CB, Faith Berman K. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behavior. Small ventricular septal defects can close on their own or become less significant over time. Philadelphia, PA. 2003:270. May is Williams Syndrome Awareness Month! Copyright 2023 Williams Syndrome Association |. Years published: 1986, 1987, 1988, 1989, 1992, 1993, 1995, 1996, 1998, 1999, 2000, 2002, 2003, 2006. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. 7 that are responsible for creating elastin, a connective tissue that gives structure, support, and resilience to tissues found in your childs lungs, skin, tendons, ligaments, and arteries. Serena Williams has confirmed that she is pregnant with her second child during the Met Gala. Children are slower to walk, talk, and gain new skills compared to other children their age. People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) In some cases, William's Syndrome may trigger unsafe choices and behaviors. Toy maker Mattel has introduced its first Barbie with Down's syndrome in a bid to make its famous doll range more inclusive. Hyperactivity and attention deficit disorder are also common, although most affected individuals have good long-term memory. Symptoms may include unusual heart sounds (murmurs), difficulty breathing, chest pain, and, in severe cases, congestive heart failure. Please note that NORD provides this information for the benefit of the rare disease community. Kelley's mother, Anne, realized what was happening $1,500 later. Williams syndrome is a genetic condition that affects many parts of the body. 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Most people with Williams syndrome will not have the ELN gene. Williams Syndrome (WS) affects an estimated 20,000 to 30,000 people in the United States. Some affected individuals may have a sunken breastbone (pectus excavatum) and inward turning of the great toe toward the other toes (hallux valgus). Babies can be born with serious cardiovascular problems, and heart and artery problems are common. Williams Syndrome is caused by the deletion of roughly 25 genes on chromosome 7. ), Attention Deficit Hyperactivity disorder is a behavioral disorder of childhood characterized by a short attention span, excessive impulsiveness, and inappropriate hyperactivity. In familial cases, Williams syndrome is inherited as an autosomal dominant trait. If you think most children -- with or without Williams -- are warm and open, you'd be wrong. 15th ed. This defect usually occurs in association with other heart defects, such as septal defects and/or supravalvar aortic stenosis. Posted April 25, 2023. He was stupendous! Danbury, CT 06810 MAY IS WILLIAMS SYNDROME AWARENESS MONTH! Didn't find the answer you were looking for? Learn more. Kruse K, et al. To learn more about Williams syndrome, get help from an organization that specializes in rare disorders. Some infants with Williams Syndrome may have dental abnormalities including malformed teeth (i.e., hypoplastic enamel), small teeth (microdontia), and upper and lower teeth that do not meet properly (malocclusion). The disorder may be characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. Blood passes from the left ventricle of the heart, through the aortic valve, and into the aorta. Transition Strategies - High School to Adult Life, Our 40th AnniversaryA Year of Transition for the WSA, everyone benefits when individuals with WS are meaningfully included in educational, work, and community settings, individuals with WS should receive all necessary supports and services to fully participate in their family lives, communities, and society as a whole, high expectations should be the norm, and that individuals with WS and their families should decide how they best learn, work, and enjoy social settings, inclusion is not one-size-fits-all, and will look different for each family based on each individuals desires and needs, inclusion creates a sense of belonging in society, meaningful relationships, and opportunities to achieve dreams. 2001;30:90-2. "Last year they put two stents in and, during the process, he had a stroke. Cecil Textbook of Medicine. We and our partners use data for Personalised ads and content, ad and content measurement, audience insights and product development. Abraham Lincoln is suspected to have had the condition. Full HDThis home outdoor projector supports a 50-250" projection size, allowing you to enjoy the joy of a large screen whether indoors or outdoors. Narrowed arteries don't let as much oxygen-rich blood reach the heart and body. However, in some cases, hypercalcemia may last into adulthood. Nat Rev Neurosci. She starred in the film "Gabrielle," and won the Canadian Screen In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low hairline in the back of the head; and short stature. Johnson LB, et al., Hyperacusis in Williams syndrome. Williams syndrome is a genetic disorder that occurs in about 1 in 7,500 people. Most people with Williams syndrome are less than average height during their adult years. But that one, should you ever meet him or her, will likely have a personality of unforgettable ebullience and warmth. Continue with Recommended Cookies. Why should neurologists be interested in Williams syndrome? By continuing to use this website, you agree to the Terms of Service & Privacy Policy. Philadelphia, PA; W.B. The former tennis star arrived Robin Williams, and Tim Burton. Will Gab (as shes called by friends and family) be able to circumvent the machinations of Martins mother and have sex? An example of data being processed may be a unique identifier stored in a cookie. 2006;66:390-5. WebStanford Childrens Health is known as a national and international leader in treating Williams syndrome, seeing children from around the world and treating some of the most complex cases. Challenging this aint. Here's what to know, Adults with autism say they always felt 'different' growing up. 2003;23:1-12. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. Then came the barrage of questions. According to investigators, 28 genes within the 7q11.23 chromosomal region may play a causative role in Williams syndrome including those known as the ELN (elastin) gene, the LIMK1 (or LIM kinase-1) gene, and the RFC2 (replication factor C, subunit 2) gene. New York, NY: McGraw-Hill, Inc; 1998:2235. Gabrielle Marion-Rivard, a Canadian actress, has this disorder. I do not know about Ronald But Orlando has not been confirmed to have it. ', 3 dream interpretation tips, from a psychotherapist, Mental health of LGBTQ youth worsening in current 'hostile political climate', Self-care tips for irritable bowel syndrome. Motor development, (e.g., sitting and walking) and/or gross and fine motor skills (e.g., picking up an object) may be delayed. Arch Dis Child. If You Have Had Gillian Barra Syndrome Can You Get It Again? What time does normal church end on Sunday? Sia. It is most pronounced in those infants with blue or green eyes. Researchers hope to describe the possible genetic relationship between these two closely linked diseases. Williams syndrome (WS), also referred to as Williams-Beuren syndrome (Online Mendelian Inheritance in Man 194050), is a congenital, multisystem disorder involving the cardiovascular, connective tissue, and central nervous systems. WebFamous People With Williams Syndrome Nick Jonas, a popular singer, actor, and songwriter, was diagnosed with Williams Syndrome at the age of 13. Your support helps to ensure everyones free access to NORDs rare disease reports. For more information please contact the center nearest to you: Cincinnati Center for Developmental Disorders. Williams Syndrome Famous People Many famous people have WS including singer/songwriter Carly Simon and opera singer Andrea Bocelli. Marion-Rivard makes it easy to root for Gabrielle. Most cases of Williams syndrome appear to occur spontaneously (sporadically) for unknown reasons. Comparisons may be useful for a differential diagnosis: Noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital). One of the most common heart problems in children with Williams syndrome can be narrow pulmonary arteries, the arteries that carry blood to the lungs. Large ventricular defects can cause life-threatening complications during infancy. It affects boys and girls equally. Children with this syndrome could have problems with their heart, blood vessels, kidneys, and other organs. People with this disorder are not able to use the insulin effectively. Learn more by visiting theWilliams Syndrome Association>, Have questions? 2000;98:324-9. (For more information on this disorder, choose Attention Deficit Hyperactivity as your search term in the Rare Disease Database.). Pankau R, et al., Familial Williams-Beuren syndrome showing varying clinical expression. J Otolaryngol. A rare genetic condition brings with it an unforgettable personality. Chronic middle ear infections (otitis media) are often present. Some can lead a very normal life. ", Williams Syndrome Association: "Frequently Asked Questions About Williams Syndrome and the WSA," "What Is Williams Syndrome? This can be helpful if you plan to have children. Suite 500 They can also be slow to develop and struggle with learning challenges, including attention deficit disorder. Several persons of note and distinction have come from the historic city of Verona. Its really all about helping fellow human beings on this earth. Michael J. WebMaisie Williams Game of Thrones actress, Maisie Williams, better known as Arya Stark, battles imposter syndrome despite having starred in one of the most famous shows in television history. Some Your doctor will do an exam and ask about your family medical history. Despite facing various challenges related to his condition, Nick has gone on to (Its also refreshing to see a film that acknowledges, without fuss, that people with disabilities still feel sexual desire.) In: NORD Guide to Rare Disorders. 248.244.2229 800.806.1871 248.244.2230 fax Many babies have life-threatening cardiovascular problems. 2005 - 2023 WebMD LLC, an Internet Brands company. There are no concrete, confirmed examples of celebrities who suffer from Williams Syndrome, although there are rumors that the amazingly gregarious comedian, Carrot Top, may fit the criteria for a person with William's Syndrome. 2006;7:380-93. Love you, sis!!! Philadelphia, PA; W.B. Learn more about Alex, Kelley Martin and Williams Syndrome on "20/20" tomorrow at 10 p.m. I dont think its fair. Children with Leprechaunism usually have low levels of circulating glucose (hypoglycemia) and elevated levels of insulin (hyperinsulinemia). Williams Syndrome Australia has a range of information and useful resources. Sometimes they dont interpret social cues well. Williams syndrome can be diagnosed shortly after birth, yet sometimes it is mild and goes undetected until later in childhood when a heart murmur is noticed by a doctor. The condition is caused by missing genes from chromosome No. Newborns with Williams syndrome have characteristic elfin-like facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth. In another experiment, Tager-Flusberg has a stranger enter a room. caused by an absence of 26 genes from chromosome 7. The deletion can occur randomly during the production of a sperm or egg cell. She paired the outfit with pearl necklaces, white headbands, and gold earrings. Williams syndrome affects 1 in every 10,000 people world wide. Children with Williams syndrome are extremely sensitive to sound and may overreact to unusually loud or high-pitched sounds (hyperacusis). Submit a paragraph about the impact your child (of any age) has had on their community for possible use in future blogs and on the WSA website, toinfo@williams-syndrome.org. Bennett JC, Plum F., eds. Such social disinhibition and innocence can have real-life consequences, and that extends to adults with Williams Syndrome. Williams syndrome: features in late childhood and adolescence. Every child with Williams syndrome is different. Birth Defects Encyclopedia. Suite 116 Troy, MI 48084-4153. info@williams-syndrome.org. Morris CA, et al. White starburst pattern around the iris, or colored part of the, The pulmonary arteries that carry blood from the heart to the, Cardiologist -- a doctor who treats heart problems, Endocrinologist -- a doctor who treats hormone problems, Gastroenterologist -- a doctor who treats gastrointestinal problems, Special education, including speech and language, Surgery to fix a blood vessel or heart problem. Brain biochemistry in Williams syndrome. However, some children are of average intelligence with severe learning disabilities. Leprechaunism is a rare progressive inherited endocrine disorder characterized by overgrowth (hyperplasia) of the pancreas, inability to properly utilize insulin (insulin resistance), and excessive amounts of estrogen. Watching a recording of a typically-developing child reacting to a hairy, moving, toy spider, Tager-Flusberg noted, not surprisingly, "She doesn't want to approach itand doesn't have any inclination to go near to it and touch.". The syndrome was first identified in 1961 by New But children with Williams often went right over to the experimenter to rub her knee and ask, "What's wrong? "It's very scary," Anne Martin told 20/20. We may earn a commission from links on this page. Cardiac anomalies in Williams-Beuren syndrome. Idiopathic infantile hypercalcemia is characterized by the elevation of blood calcium levels in a newborn for which there is no apparent cause (idiopathic). Lippincott Williams & Wilkins. Though there are 20,000 to 25,000 genes in the human genome, even the loss of just 25 genes can have profound effects on a person's physical, behavioral and cognitive make-up. His outlook, determination and dedication to making others happy makes me almost walk on air.. Babies with Williams syndrome are born without certain genes. The American Academy of Pediatrics released a policy statement in May 2001 on the topic, Health Care Supervision for Children with Williams Syndrome (RE0034). With input from doctors, researchers, and the US Food & Drug Administration, NORD has created IAMRARE to facilitate patient-powered natural history studies to shape rare disease research and treatments. Last updated: In addition to her musical career, Love has also acted in a number of films and television shows, including Man on the Moon, Sons Skeletal and joint abnormalities may result in an abnormal manner of walking (awkward gait). Meanwhile, her spouse wore a black suit and bowtie with a white button down. Williams syndrome (WS) is a rare genetic disorder. June 9, 2011 -- Williams Syndrome is a rare genetic condition -- so rare, in fact, that few people have ever heard of it. WebOtherland is a science fiction tetralogy by American writer Tad Williams, published between 1996 and 2001. "When they're four or fivewhether they know you or not, within about five minutes you're their new best friend.". Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots. La informacin ms reciente sobre el nuevo Coronavirus de 2019, incluidas las clnicas de vacunacin para nios de 6 meses en adelante. Gothelf D, et al., Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. 1989;62:315-319. Courtney Love, who was born on July 9, 1964, is an American artist with skills in singing, guitar playing, songwriting, and acting.She became famous during the 1990s as the lead singer of the alternative rock band Hole. (For more information on these heart defects, see the Related Disorders section of this report.) But the camp is a place where everybody wants to be your friend regardless of who you are or what you look like. Babies born with Williams syndrome can be very small. The iris in Williams syndrome. Additional abnormalities may occur in some individuals with Williams syndrome including kidney (renal) abnormalities, chronic urinary tract infections, an underdeveloped (hypoplastic) thyroid gland, and umbilical or inguinal hernias. Vinos: http://www.lolamorawine.com.ar/vinos.html, Regalos Empresariales: http://www.lolamorawine.com.ar/regalos-empresariales.html, Delicatesen: http://www.lolamorawine.com.ar/delicatesen.html, Finca "El Dtil": http://www.lolamorawine.com.ar/finca.html, Historia de "Lola Mora": http://www.lolamorawine.com.ar/historia.html, Galera de Fotos: http://www.lolamorawine.com.ar/seccion-galerias.html, Sitiorealizado por estrategics.com(C) 2009, http://www.lolamorawine.com.ar/vinos.html, http://www.lolamorawine.com.ar/regalos-empresariales.html, http://www.lolamorawine.com.ar/delicatesen.html, http://www.lolamorawine.com.ar/finca.html, http://www.lolamorawine.com.ar/historia.html, http://www.lolamorawine.com.ar/seccion-galerias.html. Your child might get a blood test called FISH, or fluorescence in situ hybridization, to see if any genes are missing. Amy Koch, age 46 was featured in KLRU-TVs Women and Girls Lead series in Austin, TX, a multi-year, public media initiative to focus, educate and connect citizens worldwide in support of the issues facing women and girls. Amy is a graduate ofProject SEARCH, a best practice for hiring individuals with developmental disabilities created at Cincinnati Childrens Hospital and Medical Center. Sarah Leenhoff is a williams syndrome famous person who became well known after she posted a series of images from her art collection on social media. Am J Med Genet A. Hallidie-Smith KA, et al. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); vertical skin folds that may cover the eyes inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a low nasal bridge; and low-set, prominent, abnormally rotated ears (pinnae).
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