Rubinstein Taybi Syndrome

What is Rubenstein Taybi syndrome?

Rubenstein Taybi syndrome is a chromosomal abnormality with a frequency of 1 in 300,000 births. It is due to a spontaneous deletion of part of chromosome 16 leading to multiple abnormal fetal developments.

What are the signs and symptoms of Rubenstein Taybi syndrome?

Signs and symptoms of Rubenstein Taybi syndrome include:
• underdeveloped jaw;
• narrow palate;
• low-set and malformed ears;
• talon cusp malformation in one or more Cheap Jordan Sale teeth;
• deformed thumbs and big toes;
• extra fingers;
• webbed fingers;
• eye deformation (including congenital glaucoma, retinal abnormalities, and strabismus);
• mental retardation;
• short stature (adults do not grow taller than 58 to 60 inches);
• speech difficulties;
• muscle weakness (hypotonia);
• feeding problems;
• excessive hairiness (hirsutism) in girls;
• cryptorchidism (condition where testes have not descended into the scrotum) in boys;
• joint hyper mobility;
• cardiac malformations; and
• high sensitivity to succinylcholine (used with intubation general anesthesia during surgeries).

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