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Congenital defects
- ... according to the inheritance pattern for that condition. Congenital diaphragmatic defect Genetic Testing Registry: Diaphragmatic hernia 2 Genetic Testing ...
- Chromosome Abnormalities (National Human Genome Research Institute)Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
- ... Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb reduction anomalies Genetic Testing Registry: ...
- Alveolar abnormalities are changes in the tiny air sacs in the lungs, called alveoli. Alveoli allow oxygen to enter ... It requires many alveoli to be destroyed before abnormalities in carbon dioxide and oxygen levels do occur. ...
- Heart Disease (Mayo Foundation for Medical Education and Research)Heart Diseases/Start Here ... Heart Diseases ... Mayo Foundation for Medical Education and Research
- ... delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. Am J Med ...
- ... Burn-McKeown syndrome include mild short stature and congenital heart defects such as patent ductus arteriosus (PDA). The ductus ... have been shown to cause other conditions with abnormalities affecting the head and face (craniofacial malformations), so ...
- Walking Problems (National Library of Medicine)What are walking problems? If you are like most people, you walk thousands of steps each day. You walk to do your daily activities, get around, and exercise. ...
- ... syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.The genital ...
- ... characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of ... chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have ...