Distally-placed thumbs. Short second and fifth fingers. Long and broad first toes. Widely spaced first and second toes. Medial dorsal curvature of fourth toes. Syndactyly of second and third toes.
Percin et al. (1995) reported a family in which members in 3 generations showed various combinations of malformations: congenital heart defect (primum type atrial septal defect in 1 and Fallot pentalogy in another), cleft lip/palate, short stature, microcephaly, ... Percin et al. (1995) reported a family in which members in 3 generations showed various combinations of malformations: congenital heart defect (primum type atrial septal defect in 1 and Fallot pentalogy in another), cleft lip/palate, short stature, microcephaly, distally-placed thumbs, short second and fifth fingers, long and broad first toes, wide distance between first and second toes, and medial dorsal curvature of the fourth toes with syndactyly of the second and third toes. Wheras some members of the family had full signs of the syndrome, others had fewer and less severe anomalies of the same structures. One of the affected members of the family had an occult right cleft lip.