Rubinstein-Taybi Syndrome is a syndrome featuring multiple congenital anomalies and mental retardation.


Frequency: 1 in 100,000 to 1 in 125,000 births.


Intrauterine and neonatal features:

(1) polyhdyramnios

(2) neonatal respiratory problems

(3) poor feeding with weight gain during infancy


Clinical findings:

(1) postnatal growth retardation

(2) microcephaly

(3) characteristic facial features

(3a) high arched eyebrows

(3b) long eyelashes

(3c) down-slanting palpebral fissures

(3d) broad nasal bridge

(3e) beaked nose with the septum extending below the alae

(3f) high arched palate

(3g) slight micrognathia

(3h) facial grimacing

(3i) nasolacrimal duct obstruction

(3j) ptosis of the eyelids

(3k) "talon cusps" permanent incisors (key diagnostic feature)

(4) changes to digits

(4a) broad thumbs and/or halluces

(4b) broadening of the terminal broadening of the phalanges

(4c) radial deviation in thumbs and medial deviation in halluces

(4d) clinodactyly of the fifth finger

(5) mental retardation

(6) eye disorders

(6a) congenital or juvenile glaucoma

(6b) strabismus

(6c) refractive errors

(7) congenital heart defects

(8) hirsutism

(9) nevus flammeus on the forehead

(10) keloid formation

(11) seizures

(12) hearing loss

(13) constipation

(14) frequent upper airway infections during childhood

(15) increased risk of tumors (leukemia, meningioma, other)

(16) short attention span with behavioral problems in adulthood

(17) joint hypermobility


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