Others make RNA molecules that are involved in chemical reactions in the body. Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Genes are part of our DNA, the basic genetic material found in each of our body's cells. Other conditions in this group include: neurofibromatosis type 1 LEOPARD syndrome, also called Noonan syndrome with multiple lentigines Costello syndrome cardiofaciocutaneous syndrome Legius syndrome capillary malformation-arteriovenous malformation syndrome Estimated Number of People with this DiseaseĪbnormality of cardiovascular system morphology Aplasia/Hypoplasia of the abdominal wall musculature Cystic hygroma Downslanted palpebral fissures Dysarthria Enlarged thorax High forehead High palate Hypertelorism Hypogonadotropic hypogonadism Joint hyperflexibility Low-set, posteriorly rotated ears Micrognathia Midface retrusion Muscle weakness Neurological speech impairment Pectus carinatum Pectus excavatum Proptosis Ptosis Pulmonary artery stenosis Short stature Thick lower lip vermilion Thickened helices Triangular face Webbed neck Wide intermamillary distance Abnormal bleeding Abnormal dermatoglyphics Abnormal hair quantity Abnormal platelet function Abnormal pulmonary valve morphology Abnormality of coagulation Abnormality of the genital system Abnormality of the lymphatic system Abnormality of the spleen Arrhythmia Coarse hair Cryptorchidism Delayed skeletal maturation Feeding difficulties in infancy Hepatomegaly Hypotonia Low posterior hairline Scoliosis Strabismus Aplasia of the semicircular canal Brachydactyly Clinodactyly of the 5th finger Melanocytic nevus Nystagmus Radioulnar synostosis Sensorineural hearing impairment These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. Noonan syndrome belongs to a group of related conditions called the RASopathies. It is typically inherited in an autosomal dominant manner, but many cases are due to a new genetic change and are not inherited from either parent. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. In this case, fast, targeted genetic analysis can give you a more accurate diagnosis.Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In some instances, a webbed neck may be one of the features of a rare disease or genetic syndrome. It also usually includes extra skin, with hair that extends below the back hairline. #WEBBED NECK SKIN#It is usually defined as a fold of skin that runs along the neck's side, down to the shoulders. It is a congenital feature, meaning it presents at birth. They may also cause some level of discomfort, including itching and or some level of pain. They may affect the tone, texture, and appearance of the skin in different ways. Symptoms relating to the skin may be temporary or permanent and covers conditions including rashes, hives, lesions, and discoloration. Although diagnosing a skin-related symptom may involve different tests and assessments, both subjective and objective. Generally, symptoms affecting the skin can be seen with the eye. The integumentary system acts to protect our body from external threats or injury. Skin is a part of the body's integumentary system, a system that includes not only the skin but also hair and nails. Understanding which part of the body symptom affects can help us to understand better the potential underlying causes of a symptom, including a rare disease or genetic syndrome. Symptoms may affect multiple parts of the body. Understanding skin related symptoms and features *This computer-generated image is for illustration purposes only
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