346 studies found for:    "Abnormalities, Multiple"
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Rank Status Study
1 Completed Genetic Analysis of Fraser Syndrome and Fryns Syndrome
Conditions: Fraser Syndrome;   Fryns Syndrome;   Chromosomal Abnormalities;   Abnormalities, Multiple
Intervention:
2 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
3 Completed The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
Condition: Multiple Abnormalities
Intervention:
4 Recruiting Whole Genome Medical Sequencing for Genome Discovery
Conditions: Multiple Congenital Anomaly Syndromes;   Congenital Disorders;   Inherited Diseases
Intervention:
5 Available Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Conditions: Fanconi Anemia;   Autosomal or Sex Linked Recessive Genetic Disease;   Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.;   Hematopoiesis Maintainance.
Interventions: Genetic: human whole exome;   Genetic: whole genomic
6 Recruiting Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
Conditions: Intellectual Disability;   Congenital Abnormalities
Intervention: Biological: Blood sampling
7 Recruiting Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Conditions: Heterotaxy Syndrome;   Congenital Heart Defects
Intervention:
8 Recruiting Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
9 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
Intervention:
10 Terminated Efficacy and Safety of Salkera Emollient Foam in the Treatment of Moderate to Severe Keratosis Pilaris, a Prospective Study
Condition: Keratosis Pilaris
Intervention: Drug: Salkera Emollient Foam
11 Completed
Has Results
Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
12 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
13 Completed Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Conditions: Joubert Syndrome;   Cerebello-oculo-renal Syndromes
Intervention: Biological: Whole blood sample
14 Completed Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type
Conditions: EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT;   CHROMOSOME 2q31.2 DELETION SYNDROME
Interventions: Drug: celiprolol;   Drug: Control
15 Recruiting Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers
Condition: Marfan Syndrome
Interventions: Drug: Losartan;   Drug: Placebo
16 Active, not recruiting Phase I/II Thymus Transplantation With Immunosuppression #950
Conditions: DiGeorge Anomaly;   Complete DiGeorge Anomaly;   Complete Atypical DiGeorge Anomaly;   Complete DiGeorge Syndrome;   Complete Atypical DiGeorge Syndrome
Interventions: Biological: Thymus Tissue for Transplantation;   Other: Thymus Tissue and Parental Parathyroid Transplantation;   Procedure: Blood Draw;   Drug: Rabbit anti-thymocyte globulin;   Drug: Cyclosporine;   Drug: Tacrolimus;   Drug: Methylprednisolone or Prednisolone;   Drug: Daclizumab;   Drug: Mycophenolate mofetil
17 Completed Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)
Conditions: X-linked Hypohidrotic Ectodermal Dysplasia;   Hypohidrotic Ectodermal Dysplasia
Intervention:
18 Unknown  GLP Analogs for Diabetes in Wolfram Syndrome Patients
Conditions: Diabetes Mellitus Associated With Genetic Syndrome;   Wolfram Syndrome
Intervention: Drug: Exenatide
19 Recruiting The Oxford Marfan Trial
Condition: Marfan Syndrome
Interventions: Drug: Irbesartan 150-300mg capsules daily for 6 months;   Drug: Doxycycline 100-200mg capsules daily for 6 months;   Drug: Doxycycline placebo capsules daily for 6 months;   Drug: Irbesartan placebo capsules daily for 6 months
20 Completed Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease
Conditions: Alagille Syndrome;   Cholestasis;   Biliary Atresia
Interventions: Drug: magnesium gluconate;   Drug: magnesium sulfate

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Indicates status has not been verified in more than two years