Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
326 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 Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
7 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
Intervention:
8 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
9 Completed
Has Results
Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
10 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
11 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
12 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
13 Completed Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients
Conditions: Skin Cancer;   Xeroderma Pigmentosum;   Basal Cell Nevus Syndrome
Intervention:
14 Completed
Has Results
Dietary Supplements for the Treatment of Angelman Syndrome
Conditions: Angelman Syndrome;   Nervous System Diseases
Interventions: Drug: Betaine;   Drug: Creatine;   Drug: Metafolin;   Drug: Vitamin B12
15 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
16 Completed Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
Condition: X-linked Hypohidrotic Ectodermal Dysplasia
Intervention:
17 Unknown  Natural History of Amyloid Deposition in Adults With Down Syndrome
Condition: Down Syndrome
Intervention:
18 Completed Sweat Duct Imaging in Mother/Newborn Dyads
Condition: X-Linked Hypohidrotic Ectodermal Dysplasia
Intervention:
19 Recruiting A Screening Protocol to Assess Adults and Adolescents With Down Syndrome for Eligibility For Upcoming Study of RG1662 (Study BP27832)
Condition: Down Syndrome
Intervention:
20 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

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Indicates status has not been verified in more than two years