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Rare congenital association characterized by hypertelorism, prominent supraorbital ridges, abnormal pinnae, broad nasal bridge with small nose and mouth, and downward-slanting palpebral fissures. Brachydactyly with cone-shaped epiphyses, cutaneous syndactyly, flattened tip of thumbs, splayed “frog” feet with a short hallux and a large gap between the first and second toes, and lateral curvature of the toes (clinodactyly on the fifth fingers and broad big toes). Other features include coarse facies, posterior cleft palate, and conduction deafness. The skull and limb are most often abnormal.

Taybi Syndrome.

X-linked transmission with intermediate expression in females and complete expression in males; the altered gene has been mapped to chromosome Xq28.


Based on clinical aspect and radiography; female carriers present mild clinical expression (short nails, clinodactyly of toes, radiograph of anomalies in limbs and skull). A secondary ossification center at the base of the second metacarpal and metatarsal is characteristic.

Small stature (<10th percentile for age); mild mental deficiency with moderate conductive deafness. Facial bone hypoplasia with hypertelorism, small nose and mouth are present. The presence of a broad nasal root gives the affected individual a pugilistic appearance. Partial anodontia; cleft soft palate. Thickened base of skull and frontal bone with frontal and occipital prominence; failure of fusion of the posterior aspects of the spine. Absent frontal and sphenoid sinuses. Pectus excavatum. Broad thumbs and great toes; short nails, clinodactyly, limited elbow extension with dislocation of radial head. Small iliac crests.

Check teeth for caries and fragility. It is recommended to obtain a radiograph of the spine to rule out cervical instability (especially C1-C2 junction) and/or risk of brainstem compression during head flexion or extension. Severe pectus excavatum may result in restrictive pulmonary disease. Facial bone hypoplasia with small nose places the patient at risk for obstructive sleep apnea.

Possible difficult direct laryngoscopy and tracheal intubation. Postoperative brainstem compression secondary to thickened base of the skull has been reported.

No specific implications.

Clark JR, Smith LJ, Kendall BE, et al: Unexpected brainstem compression following routine surgery in a child with oto-palato-digital syndrome. Anaesthesia 50:641, 1995.  [PubMed: 7653767]
Pazzaglia UE, Beluffi G: Oto-palato-digital syndrome in four generations of a large family. Clin Genet 30:338, 1986.  [PubMed: 3791682]

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