... is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal ... legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). ...

... condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their ... birth, which appears to underlie the structural brain abnormalities and severe developmental problems characteristic of FOXG1 syndrome. ...

... condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with ... often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra ...

... disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition ... Other skeletal features include flattened vertebrae (platyspondyly); an abnormality of the hip joint that causes the upper ...

... syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability ... problems in DNA maintenance lead to the specific abnormalities characteristic of Warsaw breakage syndrome. DDX11 This condition ...

... curvature of the spine (kyphoscoliosis), and other skeletal abnormalities. The incidence of this condition is uncertain, but ... Coffin-Lowry syndrome. CLS Mental retardation with osteocartilaginous abnormalities Genetic Testing Registry: Coffin-Lowry syndrome Coffin-Lowry ...

... is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat ... mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of ...

... bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and ... abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms ...

... inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their ... abnormal brain function (encephalopathy), unusual facial features, skeletal abnormalities, and weak muscle tone (hypotonia) with poor head ...

... syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones ( ... widely spaced eyes, and a bulging forehead.Foot abnormalities are the most consistent features of Jackson-Weiss ...