Rubinstein-Taybi syndrome

Rubinstein–Taybi syndrome (RTS), is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. [Source: Wikipedia ]

OrphaNet reference
Rubinstein-Taybi syndrome 
May Cause
Abnormal lacrimal system
Abnormal odontoid process
Abnormal sternum
Absent thumb
Agenesis or hypoplasia of the corpus callosum
Brachydactyly
Broad distal phalanx of thumb
Broad thumb
Broad toe
Bulbous nose
Cataract
Clinodactyly
Clinodactyly of fifth finger
Coloboma
Congenital abnormality of great toe
Congenital heart disease
Congenital skull defect
Congenital vertebral abnormality
Congenitally abnormal pelvis
Corneal abnormality
Cryptorchidism
Defective cranial ossification
Defective dentition
Delayed bone age
Delayed closure of fontanelles
Delayed dentition
Delta phalanx
Dental defect
Dislocated patella
Duplication of great toe
Ectopic thumb
Enlarged foramen magnum
External ear malformation
Eyelid ptosis
Femoral head dysplasia
Glaucoma
Hemangioma
Hirsutism
Hypertelorism
Hypoplastic terminal phalanges
Hypoplastic thumb
Incomplete ossification of cranial sutures
Increased risk of neoplasm
Joint laxity
Large fontanelle
Large foramen magnum
Large thumb
Low-set ears
Macular stains
Malformed patella
Microcephaly
Micrognathia
Myopia
Nail aplasia
Nail deformity
Nail dystrophy
Nail hypoplasia
Natal teeth
Nipple anomaly
Nipple hypertrophy
Odontoid hypoplasia
Patent ductus arteriosus
Pectus excavatum
Polydactyly
Postaxial polydactyly
Retarded skeletal maturation
Short broad distal phalanx of thumb
Short metacarpal
Short metatarsal
Short proximal phalanx
Short thumb
Small acetabular angle
Strabismus
Syndactyly
Type B pelvis
Ventricular septal defect
Wide sutures
Wide thumb