Table 1. Signs and symptoms in RSTS patients.
| Craniofacial dysmorphisms | Skeletal malformations |
|---|---|
| Microcephaly | Broad short halluces/big toes with radial deviation |
| Low anterior hairline | 5th finger clinodactyly, preaxial polydactyly |
| Nevus flammeus at forehead | Delayed bone age |
| Down slanting palpebral fissures | Increased fractures |
| High-arched eyebrows, long eyelashes | Orthopedic problems (scoliosis, kyphosis, lordosis) |
| Ptosis, epicanthus, strabismus | Joint anomalies (patella/hip dislocation, femur head inflammation, femoral epiphysis) |
| Broad nasal bridge, beaked nose | Cervical vertebral anomalies (C1–C2 instability, fusion, hypoplasia of the dens, stenosis) |
| Prominent columella | Neuroradiological issues (corpus callosum dysgenesis, Chiari type I malformation, Dandy–Walker malformation, hydrocephalus, tethered cord) |
| High arched palate | |
| Micrognathia | Additional signs/symptoms |
| Dental malposition, talon cups, enamel hypoplasia | Ocular anomalies (strabismus, refractive errors, obstruction of tear ducts, glaucoma, coloboma, cataract) |
| Short upper lip | Hear anomalies (hypoacusia, middle ear infections) |
| Grimacing smile | Renal malformations (pyelectasia, double district, horseshoe kidney) |
| Low-set ears | Heart defects (PDA, VSD, ASD, aortic coarctation and aortic/pulmonic stenosis, BAV, pseudotruncus, dextrocardia, vascular rings, hypoplastic left heart, conduction disorders) |
| Growth delay | Vascular anomalies (spontaneous dissection of the supra-aortic arteries, aneurysm of the anterior cerebral artery) |
| Growth delay in infancy | Genital anomaly (cryptorchidism) |
| Lack of puberal spurt | Gastrointestinal problems (GER, constipation, megacolon/Hirschsprung disease) |
| Excessive weight gain at puberty | Endocrine anomalies (hypothyroidism, hypoplasia, growth hormone deficiency, pituitary hypoplasia) |
| Extranumerary nipples | |
| Psychomotor development delay | Skin anomalies (hirsutism, keloids, pilomatrixomas, hirsutism, ingrown toenails, paronychia) |
| Hypotonia | Increased risk of benign and malignant tumors |
| Intellectual disability | Nocturnal obstructive apnea |
| Speech delay | Recurrent infections |
| Behavioral/neurological problems (mood swings, obsessive-compulsive disorders, attention deficit, motor stereotypies, seizures, poor coordination) |
Abbreviations: ASD, atrial septal defect; BAV, bicuspid aortic valve; GER, gastroesophageal reflux; PDA, patent ductus arteriosus; RSTS, Rubinstein–Taybi syndrome; VSD, ventricular septal defect.
Note: Frequent clinical characteristics are in bold, and those useful for an early clinical diagnosis are in bold italics.