Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation

Updated: Jun 20, 2018
  • Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: William D James, MD  more...
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Patients may present with the following:

  • Characteristic abnormalities of the head, the face, the eyes, and the skin

  • Distinctive abnormalities of the fingers and the toes

  • Developmental delays, growth retardation, speech delays, and/or mental retardation

  • Skeletal malformations


Physical Examination

Facial abnormalities are as follows (see images below list):

  • Hypoplastic maxilla with narrow palate (100%)

  • Prominent beaked nose (90%)

  • Antimongoloid palpebral fissures (88%)

  • Low-set/malformed ears (84%)

  • Strabismus (69%)

  • Large anterior fontanelle (41%)

  • Microcephaly (35%)

  • Small mouth

  • Crowded irregular teeth, high palate, thick upper lip, short upper lip, and protuberant lower lip

    Facial abnormalities (eg, hypoplastic maxilla, pro Facial abnormalities (eg, hypoplastic maxilla, prominent beaked nose, antimongoloid palpebral fissures) and broad thumbs in a child with Rubinstein-Taybi syndrome.
    Prominent beaked nose, low-set ears, and broad thu Prominent beaked nose, low-set ears, and broad thumbs in a child with Rubinstein-Taybi syndrome.

Digital abnormalities are as follows (see image below):

  • Broad great toes (100%)

  • Broad thumbs with radial angulation (87%)

  • Broad fingers (87%)

  • Persistent fetal finger pads (31%)

  • Duplicated longitudinal bracketed epiphysis (kissing delta phalanx) [16]

  • Syndactyly, polydactyly, and ulnar deviation of the thumb

    Broad great toes in a child with Rubinstein-Taybi Broad great toes in a child with Rubinstein-Taybi syndrome.

Ocular abnormalities are as follows [17] :

  • Strabismus (60-71%)

  • Nasolacrimal duct problems (38-47%)

  • Congenital or juvenile glaucoma

  • Retinal abnormalities

  • Ptosis (29-32%)

  • Refractive errors (41-56%)

  • Macrocornea, microphthalmos, colobomas (9-11%), congenital cataract, optic nerve atrophy, and corneal keloid

Abnormalities of growth and development are as follows:

  • Mental retardation, with an intelligence quotient (IQ) of 30-79; IQ of less than 50 found in more than 50% of patients

  • Speech difficulties (90%)

  • Hypotonia (67%)

  • Growth retardation (postnatal-onset growth deficiency; average height of men is 153 cm [60 in], and average height of women is 147 cm [58 in], more frequently in patients with no CREBBP mutation) [18]

  • Feeding problems (85%) and echolalia

Skeletal abnormalities are as follows:

  • Retarded osseous maturation (49%)

  • Vertebral and sternal abnormalities (including instability of C1-C2)

  • Patellar dislocation

  • Patellofemoral instability

  • Fourth cuneiform bones [19]

  • Joint hypermobility

Skin findings are as follows:

  • Hirsutism (75%)

  • Capillary nevus of the forehead or the nape (>50%)

  • Keloid formation (4.87%) [20]

  • Multiple pilomatricomas, [21] piebaldism, long eye lashes, epidermal nevus, keratosis pilaris atrophicans faciei, [22] and striate palmoplantar keratoderma [23]

Cardiovascular system findings are as follows [24] :

  • Cardiac anomalies (32.6%)

  • ECG abnormalities (30%)

  • Cardiac arrhythmias with the use of succinylcholine

  • Ventricular septal defect and patent ductus arteriosus (both are most common)

  • Atrial septal defect, coarctation of the aorta, pulmonary artery stenosis, bicuspid aortic valve, hypoplastic left-sided heart, and conduction abnormalities

Other conditions are as follows:

  • Cryptorchidism (78-100% of males)

  • Gastroesophageal reflux (68%)

  • Constipation (40-74%)

  • Laryngeal wall collapsibility (may cause sleeping problems and difficulty during anesthesia)

  • Insomnia (glossoptosis can cause sleep apnea)

  • Mood disorders and obsessive compulsive disorder

  • Abnormal pulmonary lobulation, bilateral vesicoureteral reflux, micropenis, renal agenesis, pachygyria, [14] polysplenia, thymic hypoplasia, megacolon, multiple meningiomas, [25] congenital tracheal stenosis, epilepsy, hepatic hemangioma and congenital hypothyroidism



Cardiac arrhythmias can result if succinylcholine is administered. Sleeping problems include insomnia; glossoptosis can cause sleep apnea. Laryngeal wall collapsibility may cause sleeping problems and difficulty during anesthesia.