Rubinstein-Taby

Rubinstein Taybi Syndrome
Synonyms of Rubinstein Taybi Syndrome
* Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
* Michail-Matsoukas-Theodorou-Rubinstein-Taybi Syndrome
* RSTS
* Rubinstein syndrome
* Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome
Disorder Subdivisions
* No subdivisions found.
General Discussion
Rubinstein-Taybi syndromeis a rare genetic multisystem disorder that affects many organ systems of the body. The group of findings (constellation) associated with this syndrome include growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or"beak-shaped" nose; abnormally broad thumbs and great toes (halluces); and/or breathing and swallowing difficulties. In addition, most affected children experience delays in attaining developmental milestones (e.g., sitting, crawling, walking, talking, etc.) and/or delays in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation). Additional craniofacialabnormalities may include an abnormally small head (microcephaly); a highly-arched roof of the mouth (palate); an unusually small (hypoplastic) lower jaw (micrognathia); crossed eyes (strabismus); droopy eyelids (ptosis); downwardly slanting eyelid folds (palpebral fissures); and/or an extra fold of skin on either side of the nose that may cover the eyes' inner corners (epicanthal folds). Inaddition, many individuals with Rubinstein-Taybi syndrome may have malformations of the heart, kidneys, urogenital system, and/or skeletal system. In most cases, the skin is also affected. The range and severity of symptoms and physical findings may vary widely from case to case. Most cases of Rubinstein-Taybi syndrome occur randomly, for no apparent reason (sporadic).
Symptoms
Rubinstein-Taybisyndrome is a rare genetic multisystem disorder that typically affects many organ system of the body. The group of physical findings and symptoms associated with this syndrome include distinctive abnormalities of the fingers and toes; developmental delays, growth retardation, speech delays, and/or mental retardation; characteristic abnormalities of the head and face (craniofacial dysmorphism);breathing and swallowing difficulties; skeletal malformations; and/or urogenital abnormalities. In many cases, the skin, heart, and/or respiratory system may also be affected. Physical findings and symptoms associated with Rubinstein-Taybi syndrome vary greatly from case to case.

In most cases, infants with Rubinstein-Taybi syndrome have a distinctive findings associated with the hands and feetincluding thumbs and/or great toes that are abnormally broad as a result of unusual broadness of the bones in the tips of the thumbs and great toes (terminal phalanges). In addition, distal bones of the thumbs and great toes may also be angled improperly (misaligned) on a proximal bone that is abnormally shaped (delta phalanx). The fifth fingers may be permanently fixed in a bent position(clinodactyly).

In most cases, infants with Rubinstein-Taybi syndrome experience growth retardation and delayed bone age (below the 50th percentile) following birth (postnatally). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive). Breathing and swallowing difficulties may occur and most affected individuals are prone to repeated respiratory infections. As affectedinfants age, they may continue to experience poor growth and eventually exhibit short stature (most below the third percentile). Children with Rubinstein-Taybi syndrome may later show a relative obesity for their height.

Most infants and children with Rubinstein-Taybi syndrome experience varying degrees of mental retardation, delays in the acquisition of skills requiring coordination of...