Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rubinstein-Taybi syndrome is a rare multiple congenital anomaly (MCA) syndrome comprising mental and growth retardation, broad thumbs and big toes, and unusual face. The classical appearance is easy to recognize. It includes downslant of the palpebral fissures, epicanthal folds, ptosis, strabismus, highly arched palate, and apparently low-set angulated ears with thickened helices. The nose has a beaked appearance, broad fleshy bridge, deviated septum that is long, protruding below the level of the nasal alae with an associated short columella. Since the typical facial phenotype may not be obvious until late childhood, I have evaluated more than 40 cases of Rubinstein-Taybi syndrome, seen at varying ages from the newborn period through infancy, childhood, and adulthood, in order to learn more about the early facial appearance.
 ...
PMID:Rubinstein-Taybi syndrome: the changing face. 211 76

The main features of Rubinstein-Taybi syndrome include special facial appearance, broad thumbs, great toes and mental retardation. This syndrome presents many organogenetic and systemic deformities and various congenital ocular abnormalities, such as epicanthus, antimogoloid palpebral fissures, highly arched eyebrows, long eyelashes, obstruction of nasolacrimal ducts, strabismus and iris coloboma. In this paper we report three children with Rubinstein-Taybi syndrome with the above systemic and ocular clinical findings, and think that the lacrimal abnormality should not be overlooked in this syndrome. We brief discuss the genetics of this syndrome and suggest that the search for minimal chromosomal defects by high resolution technique might be useful for etiologic and genetic research.
 ...
PMID:[Rubinstein-Taybi syndrome--a report of three cases]. 270 81

In a six-year-old girl with Rubinstein-Taybi syndrome the ophthalmological findings were as follows: bushy brows, hypertelorism, epicanthus, an antimongoloid slant to the eyelids and hyperopia with an alternating convergent squint. In the sixth year of life juvenile glaucoma with deep cupping of the disk was found.
 ...
PMID:[Rubinstein-Taybi syndrome and juvenile glaucoma]. 688 49

Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS). The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from personal observations. Particular emphasis is given in this article to the association of RTS with glaucoma and five other findings that may be confused with glaucoma (corneal lesions, megalocornea, colobomatous or cystic optic nerve, excavation of papilla, and large cup-to-disc ratio). A case report is presented including autopsy results on a 5-year-old black female with RTS, corneal lesions, colobomas of the optic nerves, and normal intraocular pressure.
J Pediatr Ophthalmol Strabismus
PMID:Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. 749 63

Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomaly syndrome comprising mental and growth retardation, broad thumbs and great toes, and an unusual face. The classical facial appearance is well-established, striking and easy to recognize. It includes downslant of the palpebral fissures, epicanthic folds, ptosis, strabismus, highly arched palate, simple ears and a small mouth. The nose is distinctive with a beaked appearance, broad fleshy bridge, deviated septum and short low columella. Previous studies have documented considerable change in this facial phenotype with time. In this study, we evaluated 31 individuals with RTS from Great Britain and The Netherlands. They range in age from 1 to 39 years. Detailed craniofacial measurements were obtained on each subject and composite pattern profiles were compiled. There was remarkable concordance of patterns at all ages from infancy to adulthood. Microcephaly was present consistently. The head was relatively round with head width equal to head length. There was narrowness at the skull base with relative broadening of the minimal frontal diameter and lower facial width. The mouth was small and ears were broad and short. Eyes were wide-spaced in comparison to upper facial width and head circumference. The child under 4 years demonstrated some differences. Width and depth of the upper face exceeded that of the lower face, whereas with increasing age, mandibular dimensions were closer to normal than their maxillary counterparts. Despite these differences, the similarity of the profiles of all age groups seems to belie the phenotypic changes that can be appreciated subjectively. This suggests that major components of the change in appearance are those which have not been assessed in this study, such as palpebral fissure slant, deviation of the nasal bridge, presence of epicanthal folds or ptosis; or for which norms are not available, for example, beaking of the nose, and low nasal septum.
 ...
PMID:Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure. 928 47

Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, typical facies. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, congenital cataract and congenital glaucoma. The authors describe the case of a 1-year-old male with the Rubinstein-Taybi syndrome associated with unilateral congenital glaucoma. The case emphasizes the importance of detailed complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.
 ...
PMID:[Goniodysgenesis associated with Rubinstein-Taybi syndrome]. 1093 97

Rubinstein-Taybi syndrome, known also as "Broad Thumb-Hallux syndrome", was first recognized by Rubinstein and Taybi in 1963 and is characterized by somatic and ophthalmologic signs. Most commonly somatic changes are: broad thumbs and hallux, craniofacial dysmorphism, growth and psychomotor retardation. Most frequently reported eye anomalies are: antimongoloid slant of the palpebral fissures, strabismus, congenital obstruction of the lacrimal excretory system, colobomas of the iris and of the optic nerve head, ametropia.
 ...
PMID:[Ocular signs in Rubinstein-Taybi's syndrome]. 1191 86

Drosophila CREB-binding protein (dCBP) is a very large multidomain protein, which belongs to the CBP/p300 family of proteins that were first identified by their ability to bind the CREB transcription factor and the adenoviral protein E1. Since then CBP has been shown to bind to >100 additional proteins and functions in a multitude of different developmental contexts. Among other activities, CBP is known to influence development by remodeling chromatin, by serving as a transcriptional coactivator, and by interacting with terminal members of several signaling transduction cascades. Reductions in CBP activity are the underlying cause of Rubinstein-Taybi syndrome, which is, in part, characterized by several eye defects, including strabismus, cataracts, juvenile glaucoma, and coloboma of the eyelid, iris, and lens. Development of the Drosophila melanogaster compound eye is also inhibited in flies that are mutant for CBP. However, the vast array of putative protein interactions and the wide-ranging roles played by CBP within a single tissue such as the retina can often complicate the analysis of CBP loss-of-function mutants. Through a series of genetic screens we have identified several genes that could either serve as downstream transcriptional targets or encode for potential CBP-binding partners and whose association with eye development has hitherto been unknown. The identification of these new components may provide new insight into the roles that CBP plays in retinal development. Of particular interest is the identification that the CREB transcription factor appears to function with CBP at multiple stages of retinal development.
 ...
PMID:A genetic screen identifies putative targets and binding partners of CREB-binding protein in the developing Drosophila eye. 1599 17

The Rubinstein-Taybi syndrome (RTS) is a rare but well-defined condition characterized by growth and mental retardation, broad thumb-hallux, and distinctive facial features. Ten unrelated Taiwanese children (6 boys and 4 girls) with clinical features suggestive of RTS were evaluated. The associated anomalies included cryptochidism (6/6 males), microcephaly (9/10), congenital heart diseases (8/10), pectus excavatum (5/10), low IGF-I level (4/10), strabismus/nystagmus (4/10), epilepsy (3/10), glaucoma (2/10), cleft palate (2/10), web neck (2/10), limb hypoplasia (2/10), sleep apnea (1/10), and vesico-ureteral reflux (1/10). All of them had normal thyroid function. High-resolution chromosome studies by both G- and R-banding were applied to detect any microscopic chromosomal deletion, particularly over the 16p13 region (responsible for RTS locus). A panel of five cosmids spanning the human cyclic AMP-responsive element binding (CREB) binding protein (CREBBP or CBP) gene in terms of RT100, RT102, RT191, RT203 and RT166 (Leiden, the Netherlands) were used for fluorescence in situ hybridization on the metaphases of those patients. Three cases showed whole or partial deletion of one copy of the CBP gene. Thus, the rate for detecting interstitial submicroscopic deletion of this region by FISH was about 30% in these RTS patients. The disease severity seemed to be correlated with size of the deletion.
 ...
PMID:Rubinstein-Taybi syndrome: clinical and molecular cytogenetic studies. 1623 61

The introduction of molecular karyotyping technologies into the diagnostic work-up of patients with congenital disorders permitted the identification and delineation of novel microdeletion and microduplication syndromes. Interstitial 16p13.3 duplication, encompassing the CREBBP gene, which is mutated or deleted in the Rubinstein-Taybi syndrome, have been proposed to cause a recognisable syndrome with variable intellectual disability, normal growth, mild facial dysmorphism, mild anomalies of the extremities, and occasional findings such as developmental defects of the heart, genitalia, palate or the eyes. We here report the phenotypic and genotypic delineation of 9 patients carrying a submicroscopic 16p13.3 duplication, including the smallest 16p13.3 duplication reported so far. Careful clinical assessment confirms the distinctive clinical phenotype and also defines frequent associated features : marked speech problems, frequent ocular region involvement with upslanting of the eyes, narrow palpebral fissures, ptosis and strabismus, frequent proximal implantation of thumbs, cleft palate/bifid uvula and inguinal hernia. It also confirms that CREBBP is the critical gene involved in the duplication 16p13.3 syndrome.
 ...
PMID:Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. 2306 76


1