Craniofacial abnormalities include microcephaly,
an abnormally flat face and occiput, an “almond-shaped,” protruding,
ocular hypertelorism, and/or downwardly slanting palpebral fissures. Affected
individuals may also have a small “bow-shaped” mouth with thin lips,
micrognathia, cleft palate, a large, flat nose, malformed ears, and/or thin,
arched eyebrows. In some cases, the coronal and sagittal craniosynostosis
causing turricephaly has been reported. The neck may be unusually short and
wide with abnormal frontolateral webbing, potentially restricting movement
of the jaw and neck. The hairline may be abnormally low on the back of the
neck (nape). Joint contractures (fingers, wrists, elbows, knees, hips),
causing limitation of movement and abnormal postures, are often associated.
Polysyndactyly, clubhands and/or clubfeet, scoliosis, reduced diameter of
the chest, and widely spaced nipples. Genital abnormalities include, in
affected females, hypoplastic labia, and in affected males, micropenis,
hypospadias, and cryptorchidism. It may also include cardiac, intestinal,
renal, and cerebral abnormalities.