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.
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
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.
Pazzaglia UE, Beluffi G: Oto-palato-digital syndrome in four generations of
a large family. Clin Genet