The patient is 18, he has a congenital malformation of both feet in both hands. His father has the disorder but has a milder case. The patient had malformation on the lateral digits of both hands and feet as well as abnormal alignment of the radial digits of the hand and on the tibial sided digits of the feet. He has had numerous hand surgeries for correction.
He currently complains of pain in both feet that is exacerbated by walking and running, difficulty running, and he has large callouses that are painful on both feet. He has had numerous types of orthotics of the year and has had various surgeries suggested for his foot deformity over the years. However no surgical treatment has been given. His main complaint is the left foot, where the bunion is painful, and the second toe, whichunderrides the third, presses against the lateral side of the shoe and is painful during walking. He has difficulty with shoes due to the severe malformation of the foot, particularly the first ray. He has no midfoot pain or ankle pain.
The patient is a student. He is generally healthy. He smokes. He denies using recreational drugs.
Examination of the hands shows surgical removal of the fifth digit and accommodation of partially corrected malalignment of the remaining digits. Examination of the father's hands shows abnormal lengthening of the second and third rays, combined with clawing of the fourth and fifth rays. The father has a similar but less serious deformation of the feet.
Standing examination of the feet shows congenital shortening of the fourth and fifth rays, and the first and second rays are quite long, and are deviated laterally. It is hard to say whether there has been true hyperplasia of the first and second rays, but the second ray is abnormally long. The fourth and fifth toes are present, but they are abnormally shortened and the second and third toes are laterally deviated, overriding the fourth and fifth toes. No extra toes appear to be present. There is no webbing present. The foot is plantigrade on both sides. Ankle position and motion are normal.
The lateral border of the foot is rigid, and there is no flexibility between the base of the fourth and fifth metatarsals and the midfoot as might be expected. On the medial side, there is a substantial bunion deformity with lateral deviation of the first metatarsal phalangeal joint.
On the right side there is substantial hindfoot valgus, congenital pes planus, but when the patient stands on his toes there is the expected inversion of the hindfoot indicating that the subtalar joint is functional.
On the left side there is moderate congenital pes planus, milder hindfoot valgus deformity, and equally functional subtalar motion. The plantar aspect of the forefoot has a groove in the center between the medial three and the lateral two rays. There is a large callus under the first metatarsophalangeal joint, and under the fifth metatarsophalangeal joint. This is present bilaterally. The callus is not tender. Sensation and vascular status are normal, and there is no ulceration o skin breakdown on any part of either foot.
Plain radiographs show is a complex syndactyly, possible type three type, with elongation or hyperplasia of the first and second rays of the fourth and fifth toes, which extends into the mid foot, and there is fusion of the cuneiform bones. The medial side of the foot appears to be relatively normal except for the substantial deviation of the great toe.
The genesis of this patient's congenital hand and foot malformation is unclear, but it appears to be an autosomal dominant chromosomal abnormality. This pattern of malformation in the hands and feet does not appear to be due to Apert's syndrome or Down's syndrome, but it might fit with Saethre-Chotzen syndrome and Muenke-type mutation. A large number of chromosomal abnormalities are associated with syndactyly.
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