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272 studies found for:    "Abnormalities, Multiple"

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Rank Status Study
1 Unknown † Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
2 Completed Genetic Analysis of Fraser Syndrome and Fryns Syndrome
Conditions: Fraser Syndrome;   Fryns Syndrome;   Chromosomal Abnormalities;   Abnormalities, Multiple
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 Recruiting Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
6 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
Intervention:
7 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
8 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
9 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
10 Active, not recruiting Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
11 Recruiting Down Syndrome Metabolic Health Study
Conditions: Down Syndrome;   Trisomy 21
Intervention:
12 Completed Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome
Condition: Marfan Syndrome
Interventions: Drug: Atenolol;   Drug: Losartan
13 Completed Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS)
Condition: Sturge - Weber Syndrome (SWS)
Intervention:
14 Terminated Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome
Conditions: Velo-cardio-facial Syndrome;   Psychosis
Interventions: Drug: Metyrosine;   Drug: Placebo
15 Completed Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid in Individuals With Down Syndrome Compared to Individuals Without Down Syndrome
Conditions: Down Syndrome;   Amyloid Beta-protein
Intervention: Drug: Florbetaben (BAY94-9172)
16 Terminated Prader-Willi Syndrome and Appetite
Conditions: Hyperphagia;   Prader-Willi Syndrome
Intervention: Drug: Sandostatin LAR
17 Terminated Infection in DiGeorge Following CHD Surgery
Conditions: DiGeorge Syndrome;   Congenital Heart Defects
Intervention:
18 Recruiting Biomarker Development in Sturge-Weber Syndrome
Condition: Sturge-Weber Syndrome
Intervention:
19 Recruiting Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children
Condition: Down Syndrome
Intervention: Drug: thyroid hormone and folinic acid
20 Completed Prenatal Test for Fetal Aneuploidy Detection
Conditions: Aneuploidy;   Trisomy 21
Intervention:
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† Indicates status has not been verified in more than two years