25th November 2019

medicinenet

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What does Subaortic mean?

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Subaortic stenosis: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. The narrowing cuts the flow of blood.

Accordingly, what is a subaortic stenosis?

Subaortic stenosis is the second most common form of left ventricular outflow obstruction. It occurs when the flow of blood from the heart's pumping chamber or left ventricle is restricted. This obstruction is in the area of the heart under the aortic valve. There are three types of subaortic stenosis.

What is Supravalvular stenosis?

Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.

What is Shone's Complex?

Shone's syndrome (also called Shone's complex, Shone's anomaly, or Shone's disease) is a rare congenital heart disease described by Shone in 1963. In the complete form, four left-sided defects are present: Supravalvular mitral membrane (SVMM) Parachute mitral valve. Subaortic stenosis (membranous or muscular)

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What is the Costello Syndrome?

Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth.

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What is the disease CFC?

Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.

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What is a Rasopathy?

The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including: Capillary malformation-AV malformation syndrome. Costello syndrome, Noonan-like.

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What is Legius syndrome?

Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in 2007 and is often mistaken for neurofibromatosis type I (NF-1). It is caused by mutations in the SPRED1 gene. It is also known as neurofibromatosis type 1-like syndrome (NFLS).

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What is Watson's disease?

Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.

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What is Watkins disease?

Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome (also known as Leprechaunism). It is named for Dr. Joseph Hanan Patterson. It was described by Patterson and Watkins in 1962.

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What is the disease SMS?

Smith-Magenis syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability , delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.

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What is Miller's syndrome?

Miller Syndrome is a very rare genetic condition often referred to as "postaxial acrofacial dysostosis". This disorder is characterized by distinctive craniofacial malformations that occur in association with limb abnormalities. Some facial characteristics include: Underdeveloped cheekbones.

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What is Alstrom disease?

"Alström syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy and sensorineural hearing loss.

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What is Moon syndrome?

Laurence–Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities.

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What is Ackerman syndrome?

Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism), hypotrichosis, full upper lip without a cupid's bow, thickened and wide philtrum, and occasional juvenile glaucoma.

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What is Peter's Disease?

Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.

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What is Carpenter's syndrome?

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).

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What is a Mowat?

Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.

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What is Cohen's syndrome?

Cohen syndrome, also known as Pepper syndrome, is a genetic disorder that affects motor skills, mental development, and behavior. Infants with the condition grow slowly and do not gain weight at the normal rate. They also have decreased muscle tone and unusually flexible joints.

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What is Troyer syndrome?

Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex.

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What is Marshall's syndrome?

Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures.

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What is Supravalvular aortic stenosis?

Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.

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What is William Beuren syndrome?

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

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What is calcification of the aorta?

Aortic valve calcification is a condition in which calcium deposits form on the aortic valve in the heart. These deposits can cause narrowing at the opening of the aortic valve. This narrowing can become severe enough to reduce blood flow through the aortic valve — a condition called aortic valve stenosis.

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