======Rubinstein-Taybi Syndrome ======
====Main Features====
  * Mental Retardation
  * Speech difficulties
  * Broad thumbs and toes, often medially deviated
====Eye Findings====
  * External: 
    * Down-slanting palpebral fissures (88%)
    * Heavy eyebrows or high arched (76%)
    * long eyelashes (89%)
    * epicanthal folds (55%)
  * Abnormal ERG (78%)
  * Decreased Cone or Cone & Rod response
  * Macular abnormalities (75%)
    * Hypoplasia, pigment abnormalities, increased red color, absent foveal reflex
  * Abnormal VEP (60%)
  * Strabismus (70%)
  * Refractive Error (50%)
  * NLD obstruction (40%)
  * Ptosis (35%)
  * Glaucoma (35%)
  * Coloboma (25%)
  * Congenital Cataract (25%)
  * High Myopia (10%)
  * Optic atrophy/disc abnormalities (10%)
  * Chorioretinal Dystrophy (5%)
  * Microphthalmia (5%)
  * Nystagmus (4%)
  * [[ectopia_lentis|Ectopia Lentis]] (<1%)
====Etiology====
  * 1/100,000 newborns
  * Autosomal Dominant
  * Many from Chromosome 16p13.3 microdeletions or mutation in gene for CREB binding protein found in this area (19%)
  * Also 22q13: E1A binding protein
====Other Findings====
  * Postnatal growth retardation
  * Males 153 cm average
  * Females 147 cm average
  * Microcephaly
  * Agenesis of Corpus Callosum
  * Seizures
  * Hypoplastic maxilla, micrognathia
  * Beaked nose, deviated septum
  * PDA, ASD, VSD
  * Capillary Hemangiomas
  * Sternal anomalies
  * Hypospadias, Cryptorchidism
  * Hirsutism
  * Spina Bifida
  * Syndactyly, Polydactyly
  * Keloid formation
====References====
  * [[http://omim.org/entry/180849|OMIM #180849]]
  * Wright, Spiegel eds. Pediatric Ophthalmology and Strabismsus 2nd ed. p 1051
  * Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. van Genderen MM et al. BJO 2000 Oct;84(10):1177-84 (photo)
  * [[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308897/|Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management]]

{{tag>syndrome}}