What syndrome has bilateral pre-auricular, lip and oral hemangiomas on an infant with difficulty of breathing?
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Does ANYONE REALLY want to go to a DOCTOR that gets their medical training at YAHOO ANSWERS???
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Hypoplastic left heart syndrome is a term used to describe a group of closely related rare heart defects that are present at birth. Hypoplastic left heart syndrome is characterized by the underdevelopment (hypoplasia) of the chambers on the left side of the heart (i.e., left atrium and ventricle). In addition, the mitral valve, which connects these chambers to each other, is usually abnormally narrow (stenosis) or closed (atresia) and the aortic valve, which connects the heart to the major vessels that lead from the lungs (ascending aorta), may also be narrow or closed. Infants with hypoplastic left heart syndrome also have an abnormally narrow ascending aorta.
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It is facial skin condition.
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My daughter has a few birth defects, she was born with long-gap esophageal atresia and a hypoplastic left lung.  I'll tell you more later.  I need to go for now!
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Ellis-van Creveld syndrome: A type of short stature with striking shortening of the ends of the extremities (arms and legs), polydactyly (extra digits), fusion of bones in the wrist, dystrophy (abnormal growth) of the fingernails, change in the upper lip variously called 'partial hare-lip,' 'lip-tie,' etc., and cardiac (heart) malformations. The teeth may already be erupted at birth (natal teeth) and fall out prematurely. \n\nThe Ellis-van Creveld (EvC) syndrome was first described by Drs. Richard W. B. Ellis of Edinburgh and Simon van Creveld of Amsterdam. Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s.
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You may not be able to easily find someone else on Yahoo! Answers with this syndrome, because it is so rare.\n\nInformation for question browsers about what this is:\nhttp://www.ninds.nih.gov/disorders/landaukleffnersyndrome/landaukleffnersyndrome.htm\n\nHere are some support groups you can contact to find other people having to deal with it. Even if these groups are not in your area, you can start to find a connection with others...\n\nhttp://www.sdrc.org/c_res_support.php\n\nhttp://www.rarediseases.org/\n\nhttp://www.friendsoflks.com/\n\nhttp://www.aphasia.org/\n\nhttp://www.cord.ca/\n\nmessage thread: http://brain.hastypastry.net/forums/forumdisplay.php?f=153
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Hello,\n\n     I don't really understand your question. Of course, anomalies of jaw and teeth can happen, but answering why and what is more suitable for a textbook, not for yahoo! answers! Theses cases are common, can be extremely different, and be linked or not with other conditions. Teratology (the study of developmental anomalies) is a complex science!\n\nIf you have a more specific question, I might be able to help you.
681096
Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side.\nMore details at the source site.
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Waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. The syndrome got its name from a Dutch eye doctor named Petrus Johannes Waardenburg who first noticed that people with differently colored eyes often had a hearing impairment. He went on to study over a thousand individuals in deaf families and found that some of them had certain physical characteristics in common. \n\nOne commonly observed characteristic of Waardenburg syndrome is two differently colored eyes. One eye is usually brown and the other blue. Sometimes, one eye has two different colors. Other individuals with Waardenburg syndrome may have unusually brilliant blue eyes. \n\nPeople with WS may also have distinctive hair coloring, such as a patch of white hair or premature gray hair as early as age 12. Other possible physical features include a wide space between the inner corners of eyes called a broad nasal root. In addition persons with WS may have low frontal hairline and their eyebrows may connect. The levels of hearing loss associated with the syndrome can vary from moderate to profound. \n\nIndividuals with Waardenburg syndrome may have some or all of the traits of the syndrome. For example, a person with WS may have a white forelock, a patch of white hair near the forehead, and no hearing impairment. Others may have white patches of skin and severe hearing impairment. The severity of the hearing impairment varies among individuals with WS as do changes in the skin and hair. \n\nOn rare occasions, WS has been associated with other conditions that are present at birth, such as intestinal disorders, elevation of the shoulder blade, and disorders of the spine. A facial abnormality, known as cleft lip and/or palate, also has been associated with WS. \nAs a genetic disorder, Waardenburg syndrome is passed down from parent to child much like hair color, blood type, or other physical traits. A child receives genetic material from each parent. Because Waardenburg syndrome is a dominant condition, a child usually inherits the syndrome from just one parent who has the malfunctioning WS gene. Actually, there is a 50/50 chance that a child of an individual with WS will also have the syndrome.
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Poor thing. Hopefully the chemist is open by now. For the skin I used Aloe Vera Bio Active Gel on my kids, as well as calamine. Cool baths helped. Piriton for the itch. Not sure about the mouth, but you could try ice pops. And lots of calpol/nurofen of course. Hope he's over the worst soon. Hang on in there.
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First of all, I would like to say...\nI AM SO VERY SORRIE FOR YOUR LOSS! \nMy thoughts & prayers are with you! \n\nOK...as far as "Thymus Gland"...I am embarrassed to say that I  dont know ANYTHING about it, however, I included several links for you to search through. I do hope you will find some answers. \n\nDid I understand correctly when you said that the "M. E." (Medical Examiner) never GAVE a "Cause Of Death"? \n\nIt is VERY IMPORTANT that you find "Closure". It has been 43 some odd years (I was born in 1961) and you CANNOT begin to "Heal" if you have no closure. \nI SO DO wish you the very best! ;)\n\nWAIT! Check out the below article I just found. \nI have attached the link to it immediately below the article itself. \n\nDiGeorge Syndrome: \nImportant....... \nIt is possible that the main title of the report DiGeorge Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. \n\nSynonyms: \nCongenital Absence of the Thymus and Parathyroids \nDGS \nHarrington Syndrome \nPharyngeal Pouch Syndrome \nThird and Fourth Pharyngeal Pouch Syndrome \nThymic Agenesis \nThymic Aplasia, DiGeorge Type \nThymic Hypoplasia, DiGeorge Type \nThymus, Congenital, Aplasia \nChromosome 22q11 Deletion Syndrome \nDisorder Subdivisions \n\nGeneral:\nDiGeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development. These defects occur in areas known as the 3rd and 4th pharyngeal pouches, which later develop into the thymus and parathyroid glands. Developmental abnormalities may also occur in the 4th branchial arch.\n\nNormally the thymus gland is located below the thyroid gland in the neck and front of the chest and is the primary gland of the lymphatic system, which is necessary for the normal functioning of the immune system. The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of normal levels of calcium in the blood. The thymus and parathyroid glands are missing or underdeveloped in children with DiGeorge syndrome. The symptoms of this disorder vary greatly, depending upon the extent of the missing thymus and parathyroid tissue. The primary problem caused by DiGeorge syndrome is the repeated occurrence of various infections due to a diminished immune system.\n\nhttp://www.webmd.com/hw/heart_disease/nord74.asp\n\nA few links for "Resources"...\n\n1)...March of Dimes Birth Defects Foundation \n1275 Mamaroneck Avenue\nWhite Plains, NY 10605\nTel: (914)428-7100\nFax: (914)997-4763\nTel: (888)663-4637\nEmail: Askus@marchofdimes.com\nInternet: http://www.marchofdimes.com\n\n2)...Immune Deficiency Foundation\n40 West Chesapeake Avenue\nSuite 308\nTowson, MD 21230\nTel: (410)321-6647\nFax: (410)321-9165\nTel: (800)296-4433\nEmail: idf@primaryimmune.org\nInternet: http://www.primaryimmune.org\n\n3)...Chromosome 22 Central\n237 Kent Ave\nTimmins\nOntario, Intl P4N 3C2\nCanada\nTel: 7052683099\nEmail: a815@c22c.org\nInternet: http://www.c22c.org\n\n4)...NIH/National Institute of Child Health and Human Development\n31 Center Dr\nBuilding 31, Room 2A32\nMSC2425\nBethesda, MD 20892\nTel: (301)496-5133\nFax: (301)496-7101\nInternet: http://www.nih.gov/hichd/\n\nGOOD LUCK!
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Caused by a terminal deletion of the most distal band of the short arm of chromosome 1, monosomy 1p36 is the most commonly observed terminal chromosomal deletion, occurring in approximately 1 in 5,000 births (Shaffer and Lupski 2000; Heilstedt et al. 2003b). As first described by the Shaffer lab in 13 subjects (Shapira et al. 1997), craniofacial characteristics of this contiguous gene deletion syndrome (CGDS)--so-called because it involves the deletion of multiple adjacent genes on the same chromosome arm--include late-closing, large anterior fontanels (membranous intervals at the intersection of the cranial bones at the crown of the skull), brachycephaly (disproportionate shortness of the head), deep-set eyes, flat nasal bridge, asymmetric ears, and pointed chin. Monosomy 1p36 is also associated with mental retardation, developmental delay, hearing impairment, seizures, growth impairment, and heart defects (Shapira et al. 1997; Slavotinek et al. 1999; Heilstedt et al. 2003a). Over 90 subjects with rearrangements of 1p36 have enrolled in our studies, of which 61 were recently published (Heilstedt et al. 2003a). The deletion sizes in the subjects vary considerably (Wu et al. 1999; Heilstedt et al. 2003a); however, there is some uniformity in the origin of the deletions, with over 60% being maternally derived (Wu et al. 1999; Heilstedt et al. 2003a). Candidate genes have been proposed for some of the individual features of monosomy 1p36, including seizures (Heilstedt et al. 2001) and facial clefting anomalies (Colmenares et al. 2002). \n\nThe Shaffer laboratory has recently identified possible mechanisms for the generation and/or stabilization of terminal deletions of 1p (Ballif et al. 2003; Ballif et al. 2004a; Ballif et al. 2004b; Gajecka et al. 2005). In addition, the Shaffer laboratory has recently demonstrated the use of microarrays--a rapid, sensitive, and high-resolution technology for the detection of many chromosomal anomalies--in the detection of deletions of 1p36 (Yu et al. 2003). \n\n\ncheck this article\n\nShapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG (1997) Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61:642-650
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What has his pediatrician said about his condition?
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I work with a Medical Assistant whose daughter had bells palsy about ten years ago. Specialists had told her stress had a lot to do with it; the daughter (20) was very frightened too, her speech was slurred and it was almost as though she had a stroke. I'm happy to tell you that her daughter (an RN) is in perfect health, and she never had the condition return. It took about three months for it to go away completely, but never returned. God bless you.
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I dont believe it is fatal but since it does include heart malformations the possibility is there.\n\nHere is a web support group with many answered questions that might help you.\nhttp://www.noonansyndrome.org/home.html
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What is Apert Syndrome?\nApert Syndrome is a condition involving distortions of the head and face and webbing of the hands and feet. Characteristics include:\n\nskull - short from back to front, wide on the sides, and overly tall (craniosynostosis) \neyes - slightly side-spaced, bulging, the eyelids tilt downward abnormally at the sides \nface - the mid-face has a sunken-in appearance, the upper jaw slopes backward, lower teeth project in front of the upper teeth \nhands and feet - webbing and/or fusion including finger bones, toe bones, and joints of fingers and toes \nWhy did this happen?\nThere is no link between anything the mother did or did not do while she was pregnant and the occurrence of Apert Syndrome. Doctors believe Apert Syndrome occurs when a gene mutates early in the pregnancy.\n\n\nWill this happen to children I have in the future?\nThe chances of having another child with Apert Syndrome is almost non-existent if both parents are unaffected. If one parent has Apert Syndrome, there is a 50% chance that his/her children will have Apert Syndrome.\n\n\nWhat kinds of problems could my child have?\nIn addition to the physical characteristics common to Apert Syndrome, your child may have the following problems:\n\n\ncleft palate - about 30% of children with Apert Syndrome are affected \nslower learning rates and abilities - about 50% of children with Apert Syndrome are affected; however, as the children grow older, they often catch up with others \nvision problems caused by imbalance of the eye muscles \nrecurrent ear infections which can cause hearing loss \nnoisy breathing - the smaller nose and airway passages may make breathing difficult \nhyperactive sweat glands may cause your child to sweat a lot, especially while sleeping \nproblems with acne are more likely, especially during puberty\n\nWill my child need surgery?\nDepending on the severity of Apert Syndrome, your child may have some or all of the following surgeries:\n\n\ntotal skull reshaping to correct the tower skull problems at three to four months of age \nfrontal-orbital advancement to increase space within the skull and the size of both orbits (the part of the skull with holds the eyeball) at three to four months of age \nmid-facial advancement - usually prior to starting school \nfacial bi-partition to widen the upper jaw, derotate the orbits, and to narrow the upper face \nosteotomy (cutting through the bone of the upper and lower jaw to correct further problems usually during the teen years \nrhinoplasty - plastic surgery of the nose \ngenioplasty - plastic surgery of the chin or cheek \neyelid surgery to correct the abnormal downward tilt \nseparation of the fingers and/or toes\n\nNew advances and procedures concerning Apert Syndrome are constantly being developed. Be an advocate for your child!\n\n\nHow do I get help for my child?\nYour child should be treated by a qualified craniofacial medical team at a craniofacial center. Currently, FACES has information on thirty-two craniofacial teams located in 20 states, the District of Columbia, and Canada. This is by no means a comprehensive list of all the craniofacial teams. Please contact FACES for details.\n\n\nAm I alone?\nNo! There are many families and organizations who will be glad to talk with you and help you with information and support. Don't forget books, videos, and websites. The listing below will get you started. \n\n\nFACES: The National Craniofacial Association\nP. O. Box 11082\nChattanooga, TN 37401\n(800) 332-2373\nemail: faces@faces-cranio.org\nWe provide financial support for non-medical expenses to patients traveling to a craniofacial center for treatment. Eligibility is based on financial and medical need. Resources include newsletters, information about craniofacial conditions, and networking opportunities.\n\n\nApert International, Inc.\nDon & Cathie Sears\nP O Box 2571\nColumbia, SC  29202\n(803) 732-2372\nWebsite:  http://www.apert.org\nThis web site on Apert Syndrome wi
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Hemoptysis is the technical term.  Adenocarcinoma is a type of cancer that arises primarily from gladular tissue.  it has nothing to do with the Adenoids of Tonsils and Adenoids fame.\n\nThis person should be seeking quaified medical advice and evaluation for this.  If he already knows that he has cancer, his doctor(s) are more than able to help him out and should be doing so.  If he feels they are not answering his questions adequately he really shoud remind them of thier duty to do so.\n\nBest wishes