126 studies found for:    "branchio-oculo-facial syndrome" OR "Craniofacial Abnormalities"
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Rank Status Study
1 Completed Bone Regeneration Using Bone Marrow Stromal Cells
Conditions: Bone Disease;   Craniofacial Abnormality;   Healthy
Intervention:
2 Unknown  FaceBase Biorepository
Conditions: Craniofacial Abnormalities;   Cleft Lip;   Cleft Palate
Intervention:
3 Recruiting Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities;   Posttraumatic Stress Disorder;   Depressive Disorder
Interventions: Other: PTSD Checklist-Specific;   Other: Modified Flanagan Quality of Life Scale;   Other: Center for Epidemiologic Studies Depression Scale;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: PTSD, Depression, and FSS-Focused Examination;   Other: Freeman-Sheldon Specific Quality of Life Survey;   Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels
4 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
5 Recruiting Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels;   Procedure: Physiological Stress Test;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: Observational Gait Analysis;   Other: Mental Health Interview
6 Completed Stereo Photogrammetry Imaging in Normal Volunteers and Patients With Head and Facial Malformations
Condition: Craniofacial Abnormalities
Intervention:
7 Recruiting Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: STOP-FSS Survey;   Other: Medical Records Review
8 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
9 Active, not recruiting Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
Condition: Rubinstein-Taybi Syndrome
Interventions: Drug: sodium valproate;   Drug: Placebo
10 Completed A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients
Condition: Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome Patients
Interventions: Drug: Placebo;   Drug: LDE225;   Drug: LDE225 0.25%;   Drug: LDE225 0.75%
11 Completed Genetic Analysis of Craniofrontonasal Syndrome
Conditions: Craniofrontonasal Syndrome;   CFNS
Intervention:
12 Completed Mandibular Stability and Dentofacial Deformity
Condition: Maxillofacial Abnormalities
Intervention:
13 Completed Double Blind Randomized Study Into the Efficacy of Codeine Phosphate Analgesia After Cleft Palate Repair in Infants
Condition: Cleft Palate Repair
Intervention: Drug: Codeine Phosphate Analgesia
14 Recruiting Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Conditions: Smith-Lemli-Opitz Syndrome;   Cone-Rod Dystrophy;   Hearing Loss
Interventions: Drug: Antioxidants;   Drug: Cholesterol
15 Enrolling by invitation Functional Modeling of the Pediatric Airway
Conditions: Subglottic Stenosis (SGS);   Pierre Robin Sequence (PRS);   Micrognathia.;   Normal Controls From CT Scans of the Upper Airway.
Intervention:
16 Completed Primary Palatoplasty in Pediatric Patients - A Retrospective Review of Surgical Outcomes
Conditions: Cleft Lip;   Cleft Palate
Intervention:
17 Completed
Has Results
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Drug: Dietary cholesterol supplementation
18 Recruiting Immune Disorder HSCT Protocol
Conditions: Immune Deficiency Disorders:;   Severe Combined Immunodeficiency;   Chronic Granulomatous Disease;   X-linked Agammaglobulinemia;   Wiskott-Aldrich Syndrome;   Hyper-IgM;   DiGeorge Syndrome;   Chediak-Higashi Syndrome;   Common Variable Immune Deficiency;   Immune Dysregulatory Disorder:;   Hemophagocytic Lymphohistiocytosis;   IPEX;   Autoimmune Lymphoproliferative Syndrome;   X-linked Lymphoproliferative Syndrome
Intervention: Drug: Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
19 Recruiting Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Dietary Supplement: Cholesterol supplementation
20 Unknown  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome;   Williams Syndrome;   Fragile X Syndrome
Intervention: Drug: methylphenidate, fluoxetin, risperidone

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Indicates status has not been verified in more than two years