What are the signs and symptoms of Aarskog Syndrome?

May 16 23:54 2019 Print This Article

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 projecting palpebral fissures with anteverted [ rotated forward or backward] nostrils.

5. Under developed brain growth, scrotum resembling a shawl.

6 The physical phenotype is not static i.e observable characteristic keep on changing.

The males above 21 years have a few remnants of prepuberal phenotype. Their growth is mild. It can be moderate also with children of 1 to 3 years of age. Their adolescent growth is delayed. Their performance is normal to dull. They perform well in the social circles. They are hyperactive and are deficit in attention. Their face is rounded and has a receding hairline. Their eyes are wide which is referred as hypertelorism. Their eyelids are drooped and their face is not fully developed which is referred as blepharoptosis and the later involves the maxilla. Their nose is small and the nostrils move forward and are referred as anteverted.

The upper lip has a wide groove which is known as the philtrum. They also show delay in the development of teeth, irregular position of the ear and a crease in the lower lip. They have a short neck which bears webbing on the sides. They have a sunken chest which is referred as the mild pectus excavatum. Their abdomen is protruding and has an inguinal hernia. Their hand and feet are small and broad. They have a short finger and toe and have a incurving of the last finger which is known as the brachydactyly and clinodactyly respectively. They have a broad thumbs and big toes with mid webbing between the fingers and toes. Their testes are not descended.

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