Rubinstein - Taybi syndrome

Rubinstein also known as outlined's syndrome, wide thumb megalosyndactyly syndrome as a separate disease. Clinical features of the short and thick thumb (toe), a mental stunting, high-mouth cover such specific outlook. Performance of the spiritual movement retardation, respiratory infection. Facial : varying degrees of high supraorbital, blepharophimosis low ramps, blepharoplasty, sometimes within the eyelid fold, exophthalmos, strabismus, broad nose and nasal septum long, maxillary hypoplasia, ear size, shape, location anomaly, a high palate arcuate. Thumb (toe) short and thick. Striae no specific changes, including the convolution of several small, thumb pointed striae were foreign 1.30, International District fish hypothenar area is the bottom of ulnar loop patterns characteristic of the type, the District f 1.30 Allucal lateral displacement, e triangle with or without. Can be combined with vertebra, sternum and rib anomalies, congenital heart defects, abnormal urinary system. Differential diagnosis (1) Treacher-Collins syndrome similar to the high point of the population covered, Mongolia blepharophimosis anti-kind, high bridge of the nose. But Trsacher-Collins syndrome were more common in the Caucasus, deafness, hypoplastic mandible, Variable-cheekbone, and the external ear defects eyelids, mouth, etc., be able to identify characteristics. (2) Hallerman - Streiff syndrome similar point of the anti-Mongolia-blepharophimosis. beak-like nose, and so on. But Hallerman - Streiff syndrome is the skull hypoplasia, with congenital cataracts and sparse hair, blue sclera, cornea deformity. X-ray showed mandibular dysplasia, temporomandibular joints forward displacement, condylar complete absence of the characteristic change.