Macrocephaly, long face, and prognathism. Blepharoptosis, downward slanted short palpebral fissures, hypoplastic supraorbital, arched eyebrows, ridges synophrys, strabismus, and hypertelorism. Short webbed neck. Pectus carinatum and pectus excavatum. Distention, diastasis recti, abnormal umbilicus, and umbilical hernia.
Simian creases are the dermotoglyphic findings.
Patent ductus arteriosus, pulmonic stenosis, ventricular septal defect, and atrial septal defect. The syndrome is familial and is transmitted as an autosomal recessive trait.