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What is Aarskog Ose Pande Syndrome?

It is also known as the short syndrome. In this condition there are many birth defects. These defects involve the different organ systems. What are the signs and symptoms of

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What is Aarkog Syndrome?

It is an inherited disorder. It is also known as the Aarskog Scott syndrome. It is an X linked recessive disorder. The male child is at more risk as compared to the

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What are the signs and symptoms of Aarskog Syndrome?

This is characterized by: 1. Short Height. 2. Hypertelorism, that is abnormally increased space between two bodily parts or organs mostly eyes. 3. Laxity i.e looseness of joints. 4. Downward

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What is Aase Smith Syndrome?

It is also known as the Aase syndrome. It is inherited and is autosomal dominant. There is an underdevelopment of the bone marrow. It forms the blood cells which may

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What is the molecular biology of Aarskog Syndrome?

It occurs due to the mutation in FGDI gene. It encodes a GEF which refers to guanine nucleotide exchange factor. It activates a cdc 42 which is a member of

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What is ABCD Syndrome?

The ABCD syndrome denotes albinism, black lock, cell migration of the gut which involves neurocytes, and the deafness which is sensorinueral. The mutation in the gene is responsible for it.

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What are the signs and symptoms of ABCD syndrome?

It is characterized by the albinism, black lock at the temporal occipital region. It was studied in the Kurdish girl. She had white eye brows and eyelashes. She had blue

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What is the diagnosis and screening of ABCD syndrome?

In the Europe waarndenburg syndrome occurs in one in 45000 people. The diagnosis is made before the birth by ultrasound. It occurs due to the phenotype which displays disturbances in the face,

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What is Ablepharon Macrostomia Syndrome?

It is defined as a condition in which there is a malformation of skull, skin, fingers and genitals occur. It is also known as the AMS. It is a rare

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What is Abruzzo Erickson Syndrome?

It is a rare medical and genetic disorder. It leads to the cleft palate, coloboma and deafness. What are the signs and symptoms of Abruzzo Erickson syndrome? It includes the

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