376 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 Enrolling by invitation Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
Conditions: Intellectual Disability;   Autism;   Multiple Congenital Anomalies
Interventions: Other: Enhanced Genomic Report;   Other: Routine Clinical Care
5 Recruiting Whole Genome Medical Sequencing for Genome Discovery
Conditions: Multiple Congenital Anomaly Syndromes;   Congenital Disorders;   Inherited Diseases
Intervention:
6 Unknown  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
7 Recruiting Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
Conditions: Intellectual Disability;   Congenital Abnormalities
Intervention: Biological: Blood sampling
8 Recruiting Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Conditions: Heterotaxy Syndrome;   Congenital Heart Defects
Intervention:
9 Completed Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
10 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
Intervention:
11 Unknown  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 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
14 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
15 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
16 Not yet recruiting Relationship Between Down Syndrome (DS) and Alzheimer's Disease (AD)
Conditions: Down Syndrome;   Alzheimer's Dementia
Interventions: Procedure: biospecimen collection;   Other: cognitive assessments;   Other: caregiver questionnaire;   Procedure: Florbetapir F18 imaging;   Procedure: MRI;   Procedure: Fludeoxyglucose F18 (FDG);   Procedure: Tau Pet;   Procedure: Actigraphy
17 Recruiting Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome
Conditions: Inflammation and Fibrosis;   Diabetes
Intervention: Drug: PBI-4050
18 Recruiting Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome
Condition: Down Syndrome
Interventions: Biological: ACI-24 low dose;   Biological: ACI-24 high dose;   Biological: Placebo
19 Recruiting Obstructive Sleep Apnea and Down Syndrome: Clinical Examination Issue
Condition: Obstructive Sleep Apnea
Intervention: Other: Sleep Symptom
20 Not yet recruiting Post Exercise Irisin Levels in PWS Patients
Condition: Prader Willi Syndrome
Intervention: Other: exercise and blood tests

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Indicates status has not been verified in more than two years