Children with Rubinstein-Taybi syndrome are usually identified at birth or in infancy due to the striking facies and the characteristic changes affecting the hands and feet. During infancy and early childhood, respiratory difficulties, feeding problems, lack of weight gain, recurring infections, and severe constipation may occur.
Symptoms can affect different organ systems and regions:
Drooping palpebral fissures, low-lying nose bridge, high palate, grimacing laugh
Craniospinal abnormalities and changes in the area of the posterior cranial fossa (Chiari malformation, syringomyelia, os odontoideum, and cervical bone marrow compression)
Strabismus, refraction abnormalities, ptosis, obstruction of the nasolacrimal duct, cataract, coloboma, nystagmus, glaucoma, changes in the cornea, and retinal dysfunction
Around one third of RSTS patients have a congenital heart disease.
Renal changes are very common.
Maldescensus testis is present in nearly all male RSTS patients.
Broad, often angled thumbs and toes, distally broad fingers, dislocated patella, hypermobility of the joints, scoliosis, Perthes disease, slipped epiphysis at the femoral head, and changes in the cervical spine
Obstructive sleep apnea due to the combination of a narrow palate, micrognathia, muscular hypotension, obesity, and mild laryngeal wall collapse
Small keloids, pilomatrixomas
Crowded teeth, malocclusion, multiple cavities, hypodontia, hyperdontia, natal teeth, and dens evaginatus (usually lingual at the remaining incisors of the maxilla)
The following tumors have been described so far as part of RSTS: hepatoblastoma, ovarian and endometrial carcinoma, meningioma, pilomatrixoma, rhabdomyosarcoma, pheochromocytoma, neuroblastoma, medulloblastoma, oligodendroglioma, leiomyosarcoma, seminoma, odontoma, choristoma, and leukemia
Normal prenatal growth. During infancy, the parameters for growth, weight, and head circumference fall below the 5th percentile.
The average body height is 153 cm in men and 147 cm in women.
Boys often become obese during childhood and girls in adolescence.
Developmental delay in motor, psychosocial, and speech areas. The IQ is between 25 and 79.
Short attention span, low tolerance for noise and crowds, impulsiveness, and moodiness are frequently observed. In addition, attention deficit problems, hyperactivity, and self-injurious, aggressive, or autistic behavior may occur.