21. HONselect - Pierre Robin Syndrome Robin Syndrome, Pierre Syndrome, Pierre Robin - Syndrome, Pierre-Robin. Français, Syndrome de Pierre-Robin, - Pierre robin, syndrome http://www.hon.ch/HONselect/RareDiseases/C05.500.460.606.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Pierre Robin Syndrome - Pierre-Robin Syndrome - Robin Syndrome, Pierre - Syndrome, Pierre Robin - Syndrome, Pierre-Robin Français: Syndrome de Pierre-Robin - Pierre robin, syndrome Deutsch: Pierre-Robin-Syndrom Español: Síndrome de Pierre Robin Português: Síndrome de Pierre Robin HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español No Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C05.500.460.606.html Last modified: Wed May 18 2005

22. Pierre Robin Syndrome - Pierre-Robin Syndrome - Information Page With HONselect An autosomal recessive disorder characterized by brachygnathia and cleft palate, http://www.hon.ch/HONselect/RareDiseases/EN/C05.500.460.606.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Pierre Robin Syndrome": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Pierre Robin Syndrome Definition: An autosomal recessive disorder characterized by brachygnathia and cleft palate, often associated with glossoptosis, backward and upward displacement of the larynx, and angulation of the manubrium sterni. Cleft palate makes sucking and swallowing difficult, permitting easy access of fluids into the larynx. It may appear in several syndromes or as an isolated hypoplasia. (Dorland, 27th ed) Synonym(s): Pierre-Robin Syndrome / Robin Syndrome, Pierre / Syndrome, Pierre Robin / Syndrome, Pierre-Robin / Browse New search Web resources for "Pierre Robin Syndrome" English French German = Site with HON description - = Site with a robot description info: enter the site: (click below) domain of the site: HONcode - PIERRE ROBIN SYNDROME : Contact a Family - for families with disabled children: information on rare syndromes and disord...

23. ► Pierre Robin Syndrome A medical encycopedia article on the topic pierre robin syndrome. http://www.umm.edu/ency/article/001607.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Pierre Robin syndrome Overview Symptoms Treatment Prevention Definition: A group of abnormalities marked primarily by a very small lower jaw with a tongue that falls back and downward. The syndrome may include a high arched palate or cleft palate. Alternative Names: Robin sequence Causes, incidence, and risk factors: The specific causes of Pierre Robin syndrome are unknown; it can be part of many genetic syndromes. The lower jaw develops slowly over the first few months of fetal life but catches up over the first year after birth. Posterior placement of the tongue may cause choking episodes, feeding difficulty and breathing difficulties , especially while asleep. Infant hard and soft palates Review Date: 12/3/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

24. ► Pierre Robin Syndrome A medical encycopedia article on the topic pierre robin syndrome. http://www.umm.edu/ency/article/001607prv.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Pierre Robin syndrome Overview Symptoms Treatment Prevention Alternative Names: Robin sequence Prevention: Prevention of the syndrome is unknown. Treatment may reduce the number of episodes of breathing problems and choking Infant hard and soft palates Review Date: 12/3/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

25. Cleft Lip And Palate And Pierre Robin Syndrome [from CLAPA Ireland] Pierre Robin Sequence is a common variation of simple cleft palate. It never occurs in combination with cleft lip and is never inherited or passed on. http://www.cleft.ie/related/pierrerobin.htm

You are here: Home Page Related Syndromes Pierre Robin Syndrome Pierre Robin Syndrome This syndrome also referred to as Pierre Robin Sequence is a common variation of simple cleft palate. The baby has a combination of cleft palate, a small underdeveloped lower jaw (retrognathia) and a falling of the tongue into the back of the mouth (glossoptosis). This never occurs in combination with cleft lip and is never inherited or passed on. The incidence is one child in every 30,000. The milder form of the syndrome is relatively common whereas the more developed form is quite rare where the baby may have some problems breathing due to the tongue partially obstructing breathing because of its position at the back of the mouth. It is commonly accepted that the cause of this syndrome is that the baby has been cramped in the womb with the head pressed more firmly onto the chest than usual. This physically holds back the lower jaw growth and pushes the tongue up into the roof of the mouth, stopping the natural closure of the palate in the early days of development. This would explain the fact that almost all the babies' jaws catch up in growth over the first year of life and that this is not an inherited condition.

26. Cleft Booklet Chapter Ten - Pierre Robin Syndrome (from CLAPA Ireland) Chapter 10 About pierre robin syndrome, a common variation of cleft palate, including speech, feeding and hearing concerns. http://www.cleft.ie/publications/clapa_booklet/probin.htm

You are here: Home Page Publications CLAPAI Booklet Information on Chapter 10. Pierre Robin Syndrome This syndrome also referred to as Pierre Robin Sequence is a common variation of simple cleft palate. The baby has a combination of cleft palate, a small underdeveloped lower jaw (retrognathia) and a falling of the tongue into the back of the mouth (glossoptosis). This never occurs in combination with cleft lip and is never inherited or passed on. The incidence is one child in every 30,000. The milder form of the syndrome is relatively common whereas the more developed form is quite rare where the baby may have some problems breathing due to the tongue partially obstructing breathing because of its position at the back of the mouth. It is commonly accepted that the cause of this syndrome is that the baby has been cramped in the womb with the head pressed more firmly onto the chest than usual. This physically holds back the lower jaw growth and pushes the tongue up into the roof of the mouth, stopping the natural closure of the palate in the early days of development. This would explain the fact that almost all the babies' jaws catch up in growth over the first year of life and that this is not an inherited condition.

27. International Craniofacial Institute - Cleft Lip And Palate pierre robin syndrome. pierre robin syndrome Every patient s case is unique. Please contact us for a consultation. Contact Us Your Privacy Legal Notices http://www.craniofacial.net/before_after/craniofacial_before_after/craniofacial_

28. International Craniofacial Institute - Cleft Lip And Palate Syndrome Hypertelorism Pfeiffer Syndrome pierre robin syndrome Treacher Collins Syndrome pierre robin syndrome pierre robin syndrome http://www.craniofacial.net/before_after/craniofacial_before_after/pierre_robin.

29. Pierre Robin Sequence Pierre Robin sequence is characterized by an unusually small lower jaw Pierre Robin Malformation Sequence; pierre robin syndrome; Pierre Robin Triad http://my.webmd.com/hw/raising_a_family/nord651.asp?src=Inktomi&condition=health

30. Pierre Robin Syndrome Medical Information pierre robin syndrome Information from Drugs.com. pierre robin syndrome (also called Pierre Robin complex or sequence) is a condition present at birth http://www.drugs.com/enc/pierre_robin_syndrome.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Pierre Robin syndrome Injury Disease Nutrition Poison ... Infant hard and soft palates Pierre Robin syndrome Definition Pierre Robin syndrome (also called Pierre Robin complex or sequence) is a condition present at birth that is characterized by a very small lower jaw (micrognathia). The tongue tends to fall back and downward (glossoptosis) and there is cleft soft palate. Alternative Names Robin sequence Causes The specific causes of Pierre Robin syndrome are unknown. It can be part of many genetic syndromes. The lower jaw develops slowly over the first few months of fetal life but catches up over the first year after birth. Posterior placement of the tongue may cause choking episodes, feeding difficulty and breathing difficulties, especially while asleep. Symptoms very small jaw with marked receding chin tongue appears large (is actually normal size but big relative to jaw) and is placed unusually far back in the oropharynx high arched palate cleft soft palate choking on tongue (a small opening in the roof of the mouth) natal teeth Exams and Tests A physical examination is usually sufficient for your health care provider to diagnose this condition. A genetics consultation can rule out other associated anomalies and syndromes.

31. UNSW Embryology-OMIM PIERRE ROBIN SYNDROME (1970) observed pierre robin syndrome in 4 sibs, including a set of twins. The pierre robin syndrome qualifies as a sequence in terms of the definition http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-261800.htm

UNSW Embryology HEAD AND NECK DEVELOPMENT Embryology Home Page PIERRE ROBIN SYNDROME Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Head and Neck Notes List of OMIM search results Pierre Robin Syndrome 261800 PIERRE ROBIN SYNDROME Alternative titles; symbols GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT PALATE PIERRE ROBIN SEQUENCE TABLE OF CONTENTS TEXT REFERENCES SEE ALSO CREATION DATE ... Database Links Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function. TEXT Affected brothers were reported by Smith and Stowe (1961) and pictured by McKusick et al. (1962)

32. UNSW Embryology-OMIM Pierre Robin Syndrome List Back to UNSW EmbryologyHead and Neck Notes. 23 entries found, searching for pierre robin syndrome . 302380 CATEL-MANZKE SYNDROME http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-prs_list.htm

UNSW Embryology HEAD AND NECK DEVELOPMENT Embryology Home Page Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Head and Neck Notes 23 entries found, searching for "pierre robin syndrome" CATEL-MANZKE SYNDROME WEISSENBACHER-ZWEYMULLER SYNDROME; WZS PIERRE ROBIN SYNDROME PIERRE ROBIN SYNDROME AND OLIGODACTYLY PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT STICKLER SYNDROME, TYPE I; STL1 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE HYALOIDEORETINAL DEGENERATION OF WAGNER VELOCARDIOFACIAL SYNDROME ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES MARSHALL SYNDROME CEREBROCOSTOMANDIBULAR SYNDROME STICKLER SYNDROME, TYPE II; STL2

33. Pierre Robin Syndrome The Contact a Family Directory pierre robin syndrome - printer friendly PIERRE pierre robin syndrome Robin anomalad Pierre Robin Sequence is named. http://www.health-nexus.com/pierre_robin_syndrome.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Pierre Robin Syndrome Pierre Robin Syndrome / Family Village Library O - P. Pierre Robin Syndrome. ... patients with the Pierre Robin complex. Pierre Robin Syndrome information from OMIM. The Contact a Family Directory - PIERRE ROBIN SYNDROME printer friendly PIERRE ROBIN SYNDROME...Pierre Robin Syndrome: Robin anomalad Pierre Robin Sequence is named... Pierre Robin Syndrome Chapter 1: Pierre Robin Syndrome Clefts of the Lip and Palate Feeding an ... Cleft Palate Repair Pharyngeal Flap Late Cleft Treatment Pierre Robin Syndrome CHAPTERS Introduction Clefts of the Lip and ... HONselect - Pierre Robin Syndrome ... English: Pierre Robin Syndrome, - Pierre-Robin Syndrome - Robin Syndrome, Pierre - Syndrome, Pierre Robin - Syndrome, Pierre-Robin. ... Pierre Robin Network Information from a network of parents and family members who have children with Pierre Robin syndrome.

34. Catel-Manzke Syndrome,Hyperphalangy-Clinodactyly Of Index Finger pierre robin syndrome with Hyperphalangy and Clinodactyly Index Finger Anomaly with pierre robin syndrome CatelManzke Type Palatodigital Syndrome http://www.icomm.ca/geneinfo/catel.htm

35. Cleft Palate Foundation - Information About Pierre Robin Sequence/Complex Cleft Palate Foundation. CPF Publications Pierre Robin including pierre robin syndrome, Pierre Robin Triad, and Robin Anomalad. http://www.cleftline.org/publications/pierreRobin.htm

Cleft Palate Foundation Publications Cleft Palate Foundation CPF Publications :Pierre Robin Information about Pierre Robin Sequence/Complex 1997 Reprint What is Pierre Robin Sequence/Complex? Pierre Robin Sequence or Complex (pronounced "Roban") is the name given to a birth condition that involves the lower jaw being either small in size (micrognathia) or set back from the upper jaw (retrognathia). As a result, the tongue tends to be displaced back towards the throat, where it can fall back and obstruct the airway (glossoptosis). Most infants, but not all, will also have a cleft palate, but none will have a cleft lip. Over the years there have been several names given to the condition, including Pierre Robin Syndrome, Pierre Robin Triad, and Robin Anomalad. Based on the varying features and causes of the condition, either "Robin Sequence" or "Robin Complex" may be an appropriate description for a specific patient. Pierre Robin was a French physician who first reported the combination of small lower jaw, cleft palate, and tongue displacement in 1923. What causes this condition?

36. Pierre Robin Syndrome Micrognathia pierre robin syndrome Pierre Robin s sequence Retrognathia Stickler syndrome should come to mind first in cases of the Pierre Robin http://ibis-birthdefects.org/start/piersyn.htm

Tips for printing Pierre Robin Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: 11 / 22 Translocation Stickler Syndrome Support Groups Professional Associations ... Key Information Sources Topics include Titles and Micrognathia Pierre Robin Syndrome Pierre Robin's sequence Retrognathia Special Resources Pierre Robin Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Dutch] [Norwegian] [Swedish] [Ukrainian] Pierre Robin syndrome [*][P] Pierre Robin Sequence [*][S] Information about Pierre Robin Sequence/Complex Cleft Palate Foundation Publications … Pierre Robin Sequence or Complex (pronounced "Roban") is the name given to a birth condition that involves the lower jaw being either small in size (micrognathia) or set back from the upper jaw (retrognathia). As a result, the tongue tends to be displaced back towards the throat, where it can fall back and obstruct the airway (glossoptosis). Most infants, but not all, will also have a cleft palate, but none will have a cleft lip … Frequency estimates range from 1 in 2,000 to 30,000 births, based on how strictly the condition is defined. In contrast, cleft lip and/or palate occurs once in every 700 live births … Parents who have had one child with isolated Robin Sequence probably have between a 1 and 5% chance of having another child with this condition. There have not yet been enough large-scale studies to make more accurate predictions ...

37. Pierre Robin Sequence 261800 pierre robin syndrome. . Bixler D, Christian JC. pierre robin syndrome occurring in two unrelated sibships. Birth Defects Orig. Art. Ser. http://ibis-birthdefects.org/start/ukrainian/upierrob.htm

Please set browser to encoding in cyrillic...) Ïðî I.B.I.S. Ïðèºäíàéòåñü äî I.B.I.S. Ñèíäðîì Ï'ºðà Ðîáåíà (PRS); Ó 80% âèïàäê³â PRS ÿâëÿºòüñÿ ñêëàäîâîþ ÷àñòèíîþ ³íøîãî ñèíäðîìó. Îòî-ïàëàòî-ä³ã³òàëüíèé ñèíäðîì II; CHARGE- ñèíäðîì; Îçíàêè äåÿêèõ ñèíäðîì³â, àñîö³éîâàíèõ ç PRS PRS COFS ÖÅÐÅÁÐÎ-ÎÊÓËÎ-ÔÀÖ²ÀËÜÍÈÉ ÑÈÍÄÐÎÌ VCF ÂÅËÎ-ÊÀÐIJÎ-ÔÀÖ²ÀËÜÍÈÉ ÑÈÍÄÐÎÌ ³ïîïëàç³ÿ I ïàëüöÿ ²ñíóþ÷³ ã³ïîòåçè åò³îëî㳿 ³ ïàòîãåíåçó PRS ñõåìàòè÷íî ïðåäñòàâëåí³ òàê: Çàòðèìêà ðîñòó, ÿêà ÷àñòî ñóïðîâîäæóº õðîìîñîìí³ àíîìà볿, íàïðèêëàä òàê³, ÿê dup (11q)- ñèíäðîì, ìîæå ïðèâåñòè äî âðîäæåíî¿ ìàíäèáóëÿðíî¿ ã³ïîïëà糿, ÿêà ðîçâèâàºòüñÿ äî 9-ãî òèæíÿ âíóòð³øíüîóòðîáíîãî ðîçâèòêó. ³ïîïëàçîâàíà ùåëåïà çì³ùóº ÿçèê äîçàäó, ùî ïîðóøóº ïðîöåñ çìèêàííÿ çàâ³ñ ï³äíåá³ííÿ íà 8-10 òèæí³ âíóòð³øíüîóòðîáíîãî ðîçâèòêó. Ïðè àäåêâàòíîìó ë³êóâàíí³ òà âåäåíí³ õâîðîãî ìîæëèâå ïîâíå â³äíîâëåííÿ äåô³öèòó çðîñòó òà âàãè íà ïðîòÿç³ ïåð³îäó ðàííüîãî äèòèíñòâà. Ñìåðòí³ñòü ïðè PRS êîëèâàºòüñÿ â³ä 2,2 äî 26% ³ çàëåæèòü â³ä â³êó õâîðèõ íà ìîìåíò ïåðâèííîãî îáñòåæåííÿ òà ïîºäíàíèõ ñèìïòîì³â. Pierre Robin Syndrome Bixler D, Christian JC. Pierre Robin syndrome occurring in two unrelated sibships. Birth Defects Orig. Art. Ser. 1971;VII(7):67-71.

38. Medical Pierre Robin Syndrome pierre robin syndrome Contact group 83 Swallowfield road London SE7 7NT (Tel 0181 853 1811 evenings). The Pierre robin contact group is a small Contact http://www.james.hopkins.easynet.co.uk/med_p1.html

Pierre Robin Syndrome The condition is characterised by a small mandible (jaw bone), lack of tongue control with a high arched or cleft palate. Obstruction of the airway can occur due to the position of the tongue. Associated problems are feeding and breathing difficulties may be severe. However, the jaw continues to grow after birth and the condition improves with age. Inheritance Patterns : Most are sporadic events; some cases may be due to Stickler Syndrome which has autosomal dominant inheritance. Pre-Natal Diagnosis : Where a cleft palate is present it may be able to identify this using ultrasound scanning. Further information available from: Mrs Jacqui Mitchell, Pierre Robin Syndrome Contact group 83 Swallowfield road London (Tel: 0181 853 1811 evenings) The Pierre robin contact group is a small Contact group. It offers: Support especially for parents with new babies with the syndrome Support and encouragement for parents with older children Return to the Medical Index HOME EVENTS NEWS ... CONTACT US

39. WebMD With AOL Health - Catel Manzke Syndrome HyperphalangyClinodactyly of Index Finger with pierre robin syndrome pierre robin syndrome refers to a sequence of abnormalities that may occur as a http://aolsvc.health.webmd.aol.com/hw/health_guide_atoz/nord1098.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Friday, September 09, 2005 WebMD Main Condition Centers Medical Library Health Tools ... Site Map You are in Medical Library All Content Sources Health Guide A-Z Illustrated Guides Medical News Archive Member Stories Symptom Checker Health Topics Symptoms Medical Tests Medications ... For a Complete Report Catel Manzke Syndrome Important It is possible that the main title of the report Catel Manzke 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. Synonyms Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome Pierre Robin Syndrome with Hyperphalangy and Clinodactyly Index Finger Anomaly with Pierre Robin Syndrome Catel-Manzke Type Palatodigital Syndrome Disorder Subdivisions None General Discussion Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate). Infants with Catel-Manzke syndrome have an extra (supernumerary), irregularly shaped bone (i.e., hyperphalangy) located between the first bone of the index finger (proximal phalanx) and the corresponding bone within the body of the hand (second metacarpal). As a result, the index fingers may be fixed in an abnormally bent position (clinodactyly). In some cases, additional abnormalities of the hands may also be present. Due to the presence of micrognathia, glossoptosis, and cleft palate, affected infants may have feeding and breathing difficulties; growth deficiency; repeated middle ear infections (otitis media); and/or other complications. In addition, some infants with the syndrome may have structural abnormalities of the heart that are present at birth (congenital heart defects). The range and severity of symptoms and findings may vary from case to case. Catel-Manzke syndrome usually appears to occur randomly, for unknown reasons (sporadically).

40. Catel Manzke Syndrome pierre robin syndrome refers to a seque. HyperphalangyClinodactyly of Index Finger with pierre robin syndrome; pierre robin syndrome with Hyperphalangy http://www.bchealthguide.org/kbase/nord/nord1098.htm

var hwPrint=1;var hwDocHWID="nord1098";var hwDocTitle="Catel Manzke Syndrome";var hwRank="1";var hwSectionHWID="nord1098-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Catel Manzke Syndrome Important It is possible that the main title of the report Catel Manzke 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. Synonyms Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome Pierre Robin Syndrome with Hyperphalangy and Clinodactyly Index Finger Anomaly with Pierre Robin Syndrome Catel-Manzke Type Palatodigital Syndrome Disorder Subdivisions None General Discussion Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate). Infants with Catel-Manzke syndrome have an extra (supernumerary), irregularly shaped bone (i.e., hyperphalangy) located between the first bone of the index finger (proximal phalanx) and the corresponding bone within the body of the hand (second metacarpal). As a result, the index fingers may be fixed in an abnormally bent position (clinodactyly). In some cases, additional abnormalities of the hands may also be present. Due to the presence of micrognathia, glossoptosis, and cleft palate, affected infants may have feeding and breathing difficulties; growth deficiency; repeated middle ear infections (otitis media); and/or other complications. In addition, some infants with the syndrome may have structural abnormalities of the heart that are present at birth (congenital heart defects). The range and severity of symptoms and findings may vary from case to case. Catel-Manzke syndrome usually appears to occur randomly, for unknown reasons (sporadically).

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