... 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 ...

... syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" ... box (larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause difficulty swallowing or breathing, in some ...

... condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively ... reported include seizures that begin in childhood and abnormalities of the genitalia and kidneys. Snyder-Robinson syndrome ...

... not show signs and symptoms of the condition. Congenital defect of folate absorption Congenital folate malabsorption Folic acid transport defect Genetic Testing Registry: Congenital defect of folate absorption Hereditary folate malabsorption National Organization ...

... and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the ... and is present from birth (congenital), although the abnormality may not become apparent until later in life. ...

... a term used to describe a spectrum of abnormalities that primarily affect the development of the skull ( ... of cases, both sides of the face have abnormalities, which usually differ from one side to the ...

... on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.People with Poland syndrome ...

... conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and ... lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases. ...

... syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with ... sense of smell (olfactory bulb). Because of these abnormalities, people with BAMS have an impaired ability to ...

... disability, developmental delay, distinctive facial features, and brain abnormalities.Most people with MCTT syndrome have mild to ... low-set ears. Some affected individuals have dental abnormalities, such as cone-shaped (conical ), jagged, or crowded ...