This medical condition is characterized by
fine, brittled, thin light-colored hair, a beaked nose,
and severe brachydactyly. Infants affected with this condition may exhibit
several characteristic facial features, including a pear-shaped or rounded
nose, hypoplastic alae nasi, an abnormally long, broad philtrum on the upper
lip, a protruding upper lip, malar hypoplasia, and/or an abnormally
prominent maxilla. Dental anomalies are also considered a frequent occurrence
in this syndrome (e.g., malocclusion). The abnormalities of the hands and
feet include brachydactyly because of an incomplete development of the
metacarpals, metatarsals, and phalanges. Most affected individuals
exhibit a clinodactyly (permanent fixation of the fingers). Short stature,
osteochondritis, thoracic scoliosis, pectus carinatum, and/or limited
movements of certain joints complete the clinical presentation.