Patients present with anomalies of the face,
genitalia, and limbs. Growth retardation usually becomes evident at age 2 to
4 years. Facial features may include a round face with hypertelorism,
ophthalmoplegia, large cornea, hyperopic astigmatism, antimongoloid
obliquity of the palpebral fissures, strabismus, and ptosis. The nose is
short and stubby with anteverted nostrils. The philtrum is long with broad
upper lip. Cleft lip/palate, a linear dimple below the lower lip, and enamel
dysplasia are common. The midface is flattened secondary to maxillary
hypoplasia and deformity of the anterior mandible. The ears are low-set, cup
shaped, and floppy. Limb anomalies consist of short thumbs, digital
contractures, syndactyly, clinodactyly, brachydactyly, camptodactyly, and
simian creases. Abnormal genital findings include cryptorchidism, scrotal
folds encircling the penis ventrally (shawl scrotum), and inguinal hernia.
Associated heart defects have been described (e.g., pulmonary stenosis,
ventricular septal defect). Mild developmental delay seems to be frequent.
Other features are ligamentous laxity of the hands, knees, and feet, pectus
excavatum, liver cirrhosis with portal hypertension, imperforated anus,
macrocytic anemia, hemochromatosis, and broad flat feet with lymphedema.