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spondylocostal dysostosis - rare inherited disorder causing respiratory problems Definition for spondylocostal dysostosis http://health.yahoo.com/ency/healthwise/nord704 some common symptoms abnormal spine chest deformities difficulty breathing short stature some related diagnoses 1 - 6 of 6 diagnoses idiopathic scoliosis renal osteodystrophy hypophosphatasia hypophosphatemia osteogenesis imperfecta type I homocystinuria   more do i have 'spondylocostal dysostosis'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'spondylocostal dysostosis' 1 - 5 of 9 diagnostic tests CT Spine spondylocostal dysostosis and CT Spine Chest X-ray Radiological technique to image the chest spondylocostal dysostosis and Chest X-ray X-ray ribs spondylocostal dysostosis and X-ray ribs X-ray spine spondylocostal dysostosis and X-ray spine Arterial Blood Gas spondylocostal dysostosis and Arterial Blood Gas Pulse oximetry Oximetry spondylocostal dysostosis and Pulse oximetry Ultrasonography kidneys ureter bladder spondylocostal dysostosis and Ultrasonography kidneys ureter bladder CT scan spondylocostal dysostosis and CT scan X-rays spondylocostal dysostosis and X-rays for more please login, login is free (click to login) therapeutic procedures for 'spondylocostal dysostosis'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for spondylocostal dysostosis: therapeutic procedure search results for 'spondylocostal dysostosis' rankings are computer generated. please consult your health care provider. medications search results for 'spondylocostal dysostosis' rankings are computer generated. please consult your health care provider. web search results for spondylocostal dysostosis Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - spondylocostal dysostosis A gene for autosomal recessive spondylocostal dysostosis maps to 19q13 ... A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. ... In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated ... http://www.ncbi.nlm.nih.gov/pubmed/10364530   www.ncbi.nlm.nih.gov - summary Orphanet: Spondylocostal dysostosis autosomal recessive The portal for rare diseases and ... Spondylocostal dysostosis, autosomal recessive. Orpha ... distinguished from spondylocostal dysostosis (a benign ... http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=E...   www.orpha.net - summary A cluster of autosomal recessive spondylocostal dysostosis caused by ... ... us reported a cluster of eight individuals affected by spondylocostal dysostosis ... recessive spondylocostal dysostosis represents the null phenotype of ... http://www.ncbi.nlm.nih.gov/pubmed/12791036   www.ncbi.nlm.nih.gov - summary Pseudodominant inheritance of spondylocostal dysostosis type 1 caused ... Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two ... Spondylocostal dysostoses (SCD) are a heterogeneous group of disorders of axial ... http://www.ncbi.nlm.nih.gov/pubmed/15200511   www.ncbi.nlm.nih.gov - summary Jarcho-Levin Syndrome - Yahoo! Health Important It is possible that the main title of the report Jarcho ... spondylocostal dysostosis. spondylothoracic dysostosis. Disorder Subdivisions. SCDO1 ... http://health.yahoo.com/ency/healthwise/nord704   health.yahoo.com - summary DLL3 - NextBio DLL3: This gene encodes a member of the delta protein ligand family. ... cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants ... http://www.nextbio.com/b/home/home.nb?q=DLL3   www.nextbio.com - summary MedlinePlus Medical Encyclopedia: Arachnodactyly ... Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn ... Long, slender fingers can be normal and not associated with any medical problems. ... http://www.nlm.nih.gov/medlineplus/ency/article/003288.htm   www.nlm.nih.gov - summary Mutations in the human delta homologue, DLL3, cause axial skeletal ... ... delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. ... Spondylocostal dysostosis (SD, MIM 277300) is a group of vertebral ... http://www.ncbi.nlm.nih.gov/pubmed/10742114   www.ncbi.nlm.nih.gov - summary Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal ... ... gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. ... The spondylocostal dysostoses (SCDs) are a heterogeneous group of vertebral ... http://www.ncbi.nlm.nih.gov/pubmed/16385447   www.ncbi.nlm.nih.gov - summary Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes ... ... of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. ... Spondylocostal dysostosis (SCD) is an inherited disorder that is characterized ... http://www.ncbi.nlm.nih.gov/pubmed/18775957?dopt=AbstractPlus   www.ncbi.nlm.nih.gov - summary AceView: Gene:LFNG, a comprehensive annotation of human, mouse and worm ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of ... Spondylocostal dysostosis, ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=h...   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2007 ... Hits Mots-clés -441 0.32% adrenoleucodistrofia 439 0.32% klinefelter 412 0.30 ... sindrome de larsen 27 0.02% spondylocostal dysostosis 27 0.02% tipos de sindrome ... http://www.orpha.net/stat/orphanet/search_200706.html   www.orpha.net - summary AceView: gene:MESP2, a comprehensive annotation of human, mouse and ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering ... Spondylocostal dysostosis, ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=MESP2   www.ncbi.nlm.nih.gov - summary OMIM Update List for December, 2005 609813 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3; SCDO3 ... 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2005   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2007 ... Hits Mots-clés -444 0.33% dermatomiositis 413 0.31% adrenoleucodistrofia 376 ... 0.03% spondylocostal dysostosis 34 0.03% syndrome de lyell 34 0.03% valvulopatia ... http://www.orpha.net/stat/orphanet/search_200708.html   www.orpha.net - summary OMIM Update List for May, 2004 608681 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2. 608682 ADRENOMEDULLIN 2; ADM2 ... 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2004   www.ncbi.nlm.nih.gov - summary Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the ... ... pattern of abnormal vertebral segmentation in spondylocostal dysostosis. ... The spondylocostal dysostoses (SCD) are a group of disorders characterised by ... http://www.ncbi.nlm.nih.gov/pubmed/12746394   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ... Hits Mots-clés -730 0.54% adrenoleucodistrofia 503 0.37% dermatomiositis 370 ... 0.02% siringomielia 32 0.02% spondylocostal dysostosis 32 0.02% syndrome sec 32 ... http://www.orpha.net/stat/orphanet/search_200709.html   www.orpha.net - summary Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of ... ... and include spondylothoracic dysostosis (STD), JLS, Casamassima-Morton-Nance (CMN) syndrome, and spondylocostal dysostosis (SCD), among others. ... http://www.ncbi.nlm.nih.gov/pubmed/12833407   www.ncbi.nlm.nih.gov - summary DLL3 - Wikipedia, the free encyclopedia A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.". Am. ... Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two ... http://en.wikipedia.org/wiki/DLL3   en.wikipedia.org - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ... ... ankylosante 9 0.03% spondylocostal dysostosis 9 0.03% syndrome de ... enteropatica 4 0.01% acrofacial dysostosis 4 0.01% acromatopsia 4 0.01 ... http://orphanet.orpha.net/stat/orphanet/search_200607.html   orphanet.orpha.net - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of ... Spondylocostal dysostosis, autosomal recessive 2, 608681 (3) REc. 15q26.1. MIRN9-3, MIR9-3 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l147650   www.ncbi.nlm.nih.gov - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3) Fd, REc. 7(Dll3) 19q13 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l277300   www.ncbi.nlm.nih.gov - summary Jarcho-Levin syndrome - Wikipedia, the free encyclopedia ... Spondylocostal ... STD, the subtype Spondylocostal dysostosis, or SCD features ... recessive form of spondylocostal dysostosis.". Radiology 112 (3): 673 ... http://en.wikipedia.org/wiki/Jarcho-Levin_syndrome   en.wikipedia.org - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2007 ... Hits Mots-clés -782 1.04% adrenoleucodistrofia 516 0.69% orphanet 255 0.34 ... sindrome de wolf 17 0.02% spondylocostal dysostosis 17 0.02% tipos de sindrome ... http://orphanet.orpha.net/stat/orphanet/search_200704.html   orphanet.orpha.net - summary Body of second rib - NextBio Spine and rib abnormalities and stature in spondylocostal dysostosis. ... the features of spondylocostal dysostosis diagnosed using consistent diagnostic criteria. ... http://www.nextbio.com/b/home/home.nb?q=Body+of+second+rib&i...   www.nextbio.com - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Spondylocostal dysostosis, autosomal recessive 3, 609813 (3) REa, R, A. 5(Lfng) 7p22 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l609813   www.ncbi.nlm.nih.gov - summary Molecular analysis of congenital scoliosis: a candidate gene approach. The etiology of congenital scoliosis is largely unknown. The severe vertebral disorder, spondylocostal dysostosis type 1, is associated ... http://www.ncbi.nlm.nih.gov/pubmed/15717203   www.ncbi.nlm.nih.gov - summary Single gene disorders associated with congenital diaphragmatic hernia. Congenital diaphragmatic hernia (CDH) is a common birth defect with a high pre ... Drash syndrome, spondylocostal dysostosis, craniofrontonasal syndrome, Cornelia ... http://www.ncbi.nlm.nih.gov/pubmed/17436300?ordinalpos=104&i...   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mai 2006 ... Hits Mots-clés -660 1.26% adrenoleucodistrofia 464 0.88% orphanet 449 0.86 ... 0.01% smithlemliopitz 7 0.01% spondylocostal dysostosis 7 0.01% syndrome de ... http://www.orpha.net/stat/orphanet/search_200605.html   www.orpha.net - summary Notch signaling in normal and disease States: possible therapies ... The Notch signaling pathway is involved in a wide variety of highly conserved ... Multiple Sclerosis, CADASIL, Alagille Syndrome, Spondylocostal Dysostosis) ... http://www.ncbi.nlm.nih.gov/pubmed/17584081?ordinalpos=3&ito...   www.ncbi.nlm.nih.gov - summary DB Sparrow - NextBio Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. ... Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of ... http://www.nextbio.com/b/literature/literature.nb?author=DB+Sparrow   www.nextbio.com - summary Syndromes, disorders and maternal risk factors associated with neural ... This article provides a comprehensive review of syndromes, disorders, and ... Jarcho-Levin syndrome (spondylocostal dysostosis), lateral meningocele syndrome, ... http://www.ncbi.nlm.nih.gov/pubmed/18400577?ordinalpos=12&it...   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2006 ... ... spondylarthrite ankylosante 7 0.02% spondylarthritis 7 0.02% spondylocostal dysostosis 7 0.02% steinert 7 0.02% sturge weber 7 0.02% syndrome de pai 7 0.02 ... http://www.orpha.net/stat/orphanet/search_200608.html   www.orpha.net - summary LFNG - Wikipedia, the free encyclopedia ... with autosomal recessive spondylocostal dysostosis 3. Alternatively spliced ... gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. ... http://en.wikipedia.org/wiki/LFNG   en.wikipedia.org - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ... Hits Mots-clés -519 1.10% adrenoleucodistrofia 406 0.86% orphanet 346 0.74 ... 7 0.01% sinequias 7 0.01% spondylocostal dysostosis 7 0.01% stargardt 7 0.01 ... http://www.orpha.net/stat/orphanet/search_200609.html   www.orpha.net - summary E Ladi - NextBio ... DLL3 DSL dysostosis gliogenesis GNLY intracellular JAG2 lymph node medulla Mela ... in spondylocostal dysostosis, which is consistent with a critical role for N ... http://www.nextbio.com/b/literature/literature.nb?author=E+Ladi   www.nextbio.com - summary OMIM Update List for July, 2003 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 ... 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE, 1. 300032 ATR-X GENE; ATRX ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2003   www.ncbi.nlm.nih.gov - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3) Fd, REc. 7(Dll3) 19q13 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=19q13.1   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ... Hits Mots-clés -534 1.10% orphanet 463 0.95% adrenoleucodistrofia 314 0.65 ... spondylocostal dysostosis 6 0.01% sturge weber 6 0.01% succinil-coa 6 0.01 ... http://www.orpha.net/stat/orphanet/search_200610.html   www.orpha.net - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Spondylocostal dysostosis, autosomal recessive 3, 609813 (3) REa, R, A. 5(Lfng) 7p22 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d4168   www.ncbi.nlm.nih.gov - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Spondylocostal dysostosis, autosomal recessive 3, 609813 (3) REa, R, A. 5(Lfng) 7p22 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d4221   www.ncbi.nlm.nih.gov - summary SL Dunwoodie - NextBio Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. ... Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of ... http://www.nextbio.com/b/literature/literature.nb?author=SL+Dunwoodie   www.nextbio.com - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of ... Spondylocostal dysostosis, autosomal recessive 2, 608681 (3) REc. 15q26.1. MIRN9-3, MIR9-3 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d8182   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Novembre ... ... 0.02% sindrome de sebastian 14 0.02% sindrome do nanismo 14 0.02% spondylocostal dysostosis 14 0.02% trimethylaminuria 14 0.02% trisomia 18 14 0.02 ... http://www.orpha.net/stat/orphanet/search_200611.html   www.orpha.net - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3) Fd, REc. 7(Dll3) 19q13 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l109560   www.ncbi.nlm.nih.gov - summary Robinow syndrome - Wikipedia, the free encyclopedia Robinow syndrome is an extremely rare genetic disorder characterized by short ... Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis. ... http://en.wikipedia.org/wiki/Robinow_syndrome   en.wikipedia.org - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ... Période du résumé: Octobre 2007 - Mots-clés. Généré le 01-Nov-2007 22:38 CET. Hits Mots-clés -586 1.23% orphanet 115 0.24% adrenoleucodistrofia 102 0.21 ... http://orphanet.orpha.net/stat/orphanet/search_200710.html   orphanet.orpha.net - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of ... Spondylocostal dysostosis, autosomal recessive 2, 608681 (3) REc. 15q26.1. MIRN9-3, MIR9-3 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l608986   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ... Hits Mots-clés -427 0.95% orphanet 304 0.68% adrenoleucodistrofia 276 0.61 ... 0.02% sirenomelia 11 0.02% spondylocostal dysostosis 11 0.02% síndrome de ... http://www.orpha.net/stat/orphanet/search_200612.html   www.orpha.net - summary show more 1  2