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Snipped Fingers. The first known case, said Dr. McKusick at Bar Harbor, was born in 1860. Though the Amish average a couple of inches shorter than the general U.S. population, there is no mistaking the deformity. Ellis-van "Creveld dwarfs range in height from only 40 to 60 inches. They have six fingers on each hand, the extra one being on the outside of the hand beyond the little finger. Sometimes (but not consistently) there is a sixth toe on one foot or both. Although it is not conspicuous at birth, many dwarf babies have an abnormal heart with only three chambers instead of four (no septum between the auricles), and a weakness or deficiency of cartilage in the chest and around the windpipe. One-fourth of the dwarf children die of such defects within two weeks of birth. Another fourth of the dwarf babies have less severe heart defects, and survive. Half of them appear to have no heart defects and may achieve a near-normal life span. One such man is now 58. He is one of eight living adult dwarfs (20 or over), and there are 16 children and teenagers.
Most parents have the children's extra fingers amputated when they are a few months old. The children show no mental retardation or IQ loss. And they probably fare better in the closed Amish community than in the less tolerant world .outside.
Fine Hair. Equally bizarre, and also transmitted through a recessive gene, is the new form of dwarfism found by Dr. McKusick among the Amish in more than a dozen communities. It is a new kind of genetic defect. Doctors who earlier noticed cases of this kind of dwarfism among the Amish mistook it for achondroplasia, a form made familiar by Velásquez's paintings of dwarfs as court jesters, with short arms and legs, a large head and a "scooped-out" nose. But Dr. McKusick's team found significant differences. These Amish dwarfs do not have big heads or misshapen noses. Aside from their short arms and legs (from a defect in their cartilage), their only other physical abnormality is their hair. It is light-colored, even in a dark-haired family. It is sparse and very fine (i.e., small diameter). It is brittle and never grows long enough for an Amish mother to braid a dwarf daughter's locks. Since the main features of this form of dwarfism are underdevelopment of cartilage and hair, Dr. McKusick has named it "cartilage-hair hypoplasia," or CHH. Only two similar cases have now been found among non-Amish in France and two more in Minnesota.
Certainly, the prevalence of these bad genes has had little effect on fertility: five CHH dwarf men have married normal women and have had normal children. But one CHH dwarf married a CHH woman, and she has borne three CHH dwarf children.