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1361 studies found for:    Open Studies | "Congenital Abnormalities"
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Rank Status Study
21 Recruiting Treatment of Brain AVMs (TOBAS) Study
Conditions: Unruptured Brain Arteriovenous Malformation;   Ruptured Brain Arteriovenous Malformation;   Arteriovenous Malformations;   AVM;   BAVM
Interventions: Procedure: Neurosurgery;   Radiation: Radiation therapy;   Procedure: Embolization
22 Recruiting Genetics of Arteriovenous Malformations
Condition: Arteriovenous Malformation
Intervention:
23 Not yet recruiting Long-term Outcome in Patients With Anorectal Malformations
Condition: Anorectal Malformation
Intervention:
24 Recruiting The Treatment of Progressive Early Onset Spinal Deformities: A Multi-Center Outcome Study
Conditions: Early Onset Scoliosis;   Congenital Spinal Deformities;   Infantile Idiopathic Scoliosis;   Neuromuscular Spinal Deformity;   Syndromic Spinal Deformity;   Thoracic Insufficiency Syndrome
Intervention:
25 Recruiting Bevacizumab Therapy for Brain Arteriovenous Malformation
Condition: Brain Arteriovenous Malformation
Intervention: Drug: Bevacizumab
26 Unknown  3D Imaging of Hard and Soft Tissue in Orthognathic Surgery
Conditions: Craniofacial Abnormalities;   Maxillofacial Abnormalities;   Cleft Lip;   Cleft Palate
Interventions: Procedure: 3D stereophotogrammetric imaging;   Procedure: 3D CT-imaging with cone-beam CT;   Procedure: Case report form
27 Recruiting Pregnancies Complicated by Fetal Anomalies
Conditions: Pregnancy;   Congenital Abnormalities
Intervention:
28 Recruiting Improving Informed Consent for Cleft Palate Repair
Conditions: Cleft Palate;   Jaw Abnormalities;   Maxillofacial Abnormalities;   Mouth Abnormalities;   Congenital Abnormalities;   Jaw Diseases;   Musculoskeletal Diseases;   Craniofacial Abnormalities;   Musculoskeletal Abnormalities;   Stomatognathic Diseases;   Stomatognathic System Abnormalities
Intervention: Behavioral: Pamphlet
29 Unknown  Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations
Condition: Cutaneous Arteriovenous Malformations
Intervention: Genetic: blood samples
30 Recruiting Prevalence of Congenital Uterine Malformations
Condition: Congenital Uterine Anomalies
Intervention:
31 Recruiting Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders;   Undiagnosed Disorders;   Disorders of Unknown Prevalence;   Cornelia De Lange Syndrome;   Prenatal Benign Hypophosphatasia;   Perinatal Lethal Hypophosphatasia;   Odontohypophosphatasia;   Adult Hypophosphatasia;   Childhood-onset Hypophosphatasia;   Infantile Hypophosphatasia;   Hypophosphatasia;   Kabuki Syndrome;   Bohring-Opitz Syndrome;   Narcolepsy Without Cataplexy;   Narcolepsy-cataplexy;   Hypersomnolence Disorder;   Idiopathic Hypersomnia Without Long Sleep Time;   Idiopathic Hypersomnia With Long Sleep Time;   Idiopathic Hypersomnia;   Kleine-Levin Syndrome;   Kawasaki Disease;   Leiomyosarcoma;   Leiomyosarcoma of the Corpus Uteri;   Leiomyosarcoma of the Cervix Uteri;   Leiomyosarcoma of Small Intestine;   Acquired Myasthenia Gravis;   Addison Disease;   Hyperacusis (Hyperacousis);   Juvenile Myasthenia Gravis;   Transient Neonatal Myasthenia Gravis;   Williams Syndrome;   Lyme Disease;   Myasthenia Gravis;   Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome);   Isolated Klippel-Feil Syndrome;   Frasier Syndrome;   Denys-Drash Syndrome;   Beckwith-Wiedemann Syndrome;   Emanuel Syndrome;   Isolated Aniridia;   Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11;   Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15;   Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion;   Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication;   Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion;   Axenfeld-Rieger Syndrome;   Aniridia-intellectual Disability Syndrome;   Aniridia - Renal Agenesis - Psychomotor Retardation;   Aniridia - Ptosis - Intellectual Disability - Familial Obesity;   Aniridia - Cerebellar Ataxia - Intellectual Disability;   Aniridia - Absent Patella;   Aniridia;   Peters Anomaly - Cataract;   Peters Anomaly;   Potocki-Shaffer Syndrome;   Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11;   Silver-Russell Syndrome Due to Imprinting Defect of 11p15;   Silver-Russell Syndrome Due to 11p15 Microduplication;   Syndromic Aniridia;   WAGR Syndrome;   Wolf-Hirschhorn Syndrome;   4p16.3 Microduplication Syndrome;   4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome;   Autosomal Recessive Stickler Syndrome;   Stickler Syndrome Type 2;   Stickler Syndrome Type 1;   Stickler Syndrome;   Mucolipidosis Type 4;   X-linked Spinocerebellar Ataxia Type 4;   X-linked Spinocerebellar Ataxia Type 3;   X-linked Intellectual Disability - Ataxia - Apraxia;   X-linked Progressive Cerebellar Ataxia;   X-linked Non Progressive Cerebellar Ataxia;   X-linked Cerebellar Ataxia;   Vitamin B12 Deficiency Ataxia;   Toxic Exposure Ataxia;   Unclassified Autosomal Dominant Spinocerebellar Ataxia;   Thyroid Antibody Ataxia;   Sporadic Adult-onset Ataxia of Unknown Etiology;   Spinocerebellar Ataxia With Oculomotor Anomaly;   Spinocerebellar Ataxia With Epilepsy;   Spinocerebellar Ataxia With Axonal Neuropathy Type 2;   Spinocerebellar Ataxia Type 8;   Spinocerebellar Ataxia Type 7;   Spinocerebellar Ataxia Type 6;   Spinocerebellar Ataxia Type 5;   Spinocerebellar Ataxia Type 4;   Spinocerebellar Ataxia Type 37;   Spinocerebellar Ataxia Type 36;   Spinocerebellar Ataxia Type 35;   Spinocerebellar Ataxia Type 34;   Spinocerebellar Ataxia Type 32;   Spinocerebellar Ataxia Type 31;   Spinocerebellar Ataxia Type 30;   Spinocerebellar Ataxia Type 3;   Spinocerebellar Ataxia Type 29;   Spinocerebellar Ataxia Type 28;   Spinocerebellar Ataxia Type 27;   Spinocerebellar Ataxia Type 26;   Spinocerebellar Ataxia Type 25;   Spinocerebellar Ataxia Type 23;   Spinocerebellar Ataxia Type 22;   Spinocerebellar Ataxia Type 21;   Spinocerebellar Ataxia Type 20;   Spinocerebellar Ataxia Type 2;   Spinocerebellar Ataxia Type 19/22;   Spinocerebellar Ataxia Type 18;   Spinocerebellar Ataxia Type 17;   Spinocerebellar Ataxia Type 16;   Spinocerebellar Ataxia Type 15/16;   Spinocerebellar Ataxia Type 14;   Spinocerebellar Ataxia Type 13;   Spinocerebellar Ataxia Type 12;   Spinocerebellar Ataxia Type 11;   Spinocerebellar Ataxia Type 10;   Spinocerebellar Ataxia Type 1 With Axonal Neuropathy;   Spinocerebellar Ataxia Type 1;   Spinocerebellar Ataxia - Unknown;   Spinocerebellar Ataxia - Dysmorphism;   Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Spectrin-associated Autosomal Recessive Cerebellar Ataxia;   Spasticity-ataxia-gait Anomalies Syndrome;   Spastic Ataxia With Congenital Miosis;   Spastic Ataxia - Corneal Dystrophy;   Spastic Ataxia;   Rare Hereditary Ataxia;   Rare Ataxia;   Recessive Mitochondrial Ataxia Syndrome;   Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Posterior Column Ataxia - Retinitis Pigmentosa;   Post-Stroke Ataxia;   Post-Head Injury Ataxia;   Post Vaccination Ataxia;   Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract;   Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus;   Non-progressive Cerebellar Ataxia With Intellectual Disability;   Non-hereditary Degenerative Ataxia;   Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity;   Olivopontocerebellar Atrophy - Deafness;   NARP Syndrome;   Myoclonus - Cerebellar Ataxia - Deafness;   Multiple System Atrophy, Parkinsonian Type;   Multiple System Atrophy, Cerebellar Type;   Multiple System Atrophy;   Maternally-inherited Leigh Syndrome;   Machado-Joseph Disease Type 3;   Machado-Joseph Disease Type 2;   Machado-Joseph Disease Type 1;   Lethal Ataxia With Deafness and Optic Atrophy;   Leigh Syndrome;   Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema;   Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination;   Leigh Syndrome With Nephrotic Syndrome;   Leigh Syndrome With Leukodystrophy;   Leigh Syndrome With Cardiomyopathy;   Late-onset Ataxia With Dementia;   Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome;   Infection or Post Infection Ataxia;   Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia;   Infantile Onset Spinocerebellar Ataxia;   GAD Ataxia;   Hereditary Episodic Ataxia;   Gliadin/Gluten Ataxia;   Friedreich Ataxia;   Fragile X-associated Tremor/Ataxia Syndrome;   Familial Paroxysmal Ataxia;   Exposure to Medications Ataxia;   Episodic Ataxia With Slurred Speech;   Episodic Ataxia Unknown Type;   Episodic Ataxia Type 7;   Episodic Ataxia Type 6;   Episodic Ataxia Type 5;   Episodic Ataxia Type 4;   Episodic Ataxia Type 3;   Episodic Ataxia Type 1;   Epilepsy and/or Ataxia With Myoclonus as Major Feature;   Early-onset Spastic Ataxia-neuropathy Syndrome;   Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity;   Early-onset Cerebellar Ataxia With Retained Tendon Reflexes;   Early-onset Ataxia With Dementia;   Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia;   Dilated Cardiomyopathy With Ataxia;   Cataract - Ataxia - Deafness;   Cerebellar Ataxia, Cayman Type;   Cerebellar Ataxia With Peripheral Neuropathy;   Cerebellar Ataxia - Hypogonadism;   Cerebellar Ataxia - Ectodermal Dysplasia;   Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss;   Brain Tumor Ataxia;   Brachydactyly - Nystagmus - Cerebellar Ataxia;   Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia;   Autosomal Recessive Syndromic Cerebellar Ataxia;   Autosomal Recessive Spastic Ataxia With Leukoencephalopathy;   Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;   Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria;   Autosomal Recessive Spastic Ataxia;   Autosomal Recessive Metabolic Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine;   Autosomal Recessive Ataxia, Beauce Type;   Autosomal Recessive Ataxia Due to Ubiquinone Deficiency;   Autosomal Recessive Ataxia Due to PEX10 Deficiency;   Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia;   Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia;   Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome;   Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity;   Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency;   Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect;   Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion;   Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation;   Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness;   Autosomal Recessive Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly;   Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation;   Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy;   Autosomal Dominant Spastic Ataxia Type 1;   Autosomal Dominant Spastic Ataxia;   Autosomal Dominant Optic Atrophy;   Ataxia-telangiectasia Variant;   Ataxia-telangiectasia;   Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy;   Autosomal Dominant Cerebellar Ataxia Type 4;   Autosomal Dominant Cerebellar Ataxia Type 3;   Autosomal Dominant Cerebellar Ataxia Type 2;   Autosomal Dominant Cerebellar Ataxia Type 1;   Autosomal Dominant Cerebellar Ataxia;   Ataxia-telangiectasia-like Disorder;   Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome;   Ataxia-deafness-intellectual Disability Syndrome;   Ataxia With Vitamin E Deficiency;   Ataxia With Dementia;   Ataxia Neuropathy Spectrum;   Ataxia - Tapetoretinal Degeneration;   Ataxia - Photosensitivity - Short Stature;   Ataxia - Pancytopenia;   Ataxia - Oculomotor Apraxia Type 1;   Ataxia - Hypogonadism - Choroidal Dystrophy;   Ataxia - Other;   Ataxia - Genetic Diagnosis - Unknown;   Acquired Ataxia;   Adult-onset Autosomal Recessive Cerebellar Ataxia;   Alcohol Related Ataxia
Intervention:
32 Unknown  Non-Invasive Determination of Fetal Chromosome Abnormalities
Conditions: Down Syndrome (Trisomy 21);   Edward's Syndrome (Trisomy 18);   Patau Syndrome (Trisomy 13);   Klinefelter Syndrome (47, XXY);   and Other Chromosome;   Abnormalities.
Intervention:
33 Recruiting Modifiers of Disease Severity in Cerebral Cavernous Malformations
Conditions: Cavernous Angioma, Familial;   Cerebral Cavernous Malformations;   Cerebral Cavernous Hemangioma
Intervention:
34 Recruiting suPERficial Slow-flow Vascular malFORMations Treated With sirolimUS
Condition: Vascular Malformation
Intervention: Drug: Sirolimus
35 Not yet recruiting Phase I Study of Bone Marrow Derived Mononuclear Cells to Right Ventricle of Patients With Ebstein Anomaly
Condition: Ebstein Anomaly
Interventions: Biological: Autologous Bone Marrow-derived Mononuclear Cells;   Device: Insertable cardiac monitor
36 Recruiting Efficacy and Safety of Sirolimus in Vascular Anomalies That Are Refractory to Standard Care
Condition: Vascular Malformations
Intervention: Drug: Sirolimus
37 Recruiting ONYX Evaluation in the Endovascular Treatment of Cerebral Arteriovenous Malformations (cAVM)
Condition: Cerebral Arteriovenous Malformations
Intervention:
38 Recruiting Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
Conditions: Genetic Disease;   Multiple Malformation;   Congenital Malformation
Intervention:
39 Recruiting Pregnancy Environment and Newborn Malformations
Condition: Congenital Malformation
Intervention: Other: meconium samples + maternal self-questionnaire
40 Recruiting Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
Conditions: Intellectual Disability;   Congenital Abnormalities
Intervention: Biological: Blood sampling

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