343 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 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 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Conditions: Heterotaxy Syndrome;   Congenital Heart Defects
Intervention:
7 Recruiting Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
8 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
Intervention:
9 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
10 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
11 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
12 Completed
Has Results
Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
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 Active, not recruiting Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors
Conditions: Carney Complex;   Chondrosarcoma;   Gastrointestinal Stromal Tumor;   Paraganglioma
Interventions: Other: Laboratory Biomarker Analysis;   Drug: Linsitinib;   Other: Pharmacological Study
15 Unknown  Memantine and Down's Syndrome
Conditions: Down's Syndrome;   Dementia;   Learning Disabilities
Intervention: Drug: Memantine Hydrochloride
16 Completed Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome
Condition: Alagille Syndrome
Interventions: Drug: LUM001;   Drug: Placebo
17 Recruiting Prader-Willi Syndrome Macronutrient Study
Conditions: Prader Willi Syndrome;   Syndromic Obesity;   Childhood Obesity
Interventions: Other: Low Carbohydrate diet;   Other: Low Fat diet
18 Completed Study of the Pathophysiological Mechanisms Involved in Bleeding Events
Condition: Oculocerebrorenal Syndrome
Intervention: Other: Blood sample
19 Completed
Has Results
Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome
Condition: Netherton Syndrome
Intervention: Drug: Pimecrolimus 1% Cream
20 Recruiting Clinical and Genetic Studies on Holoprosencephaly
Condition: Holoprosencephaly
Intervention:

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Indicates status has not been verified in more than two years