The classic features include rhizomelic dwarfism, macrocephaly, exaggerated lumbar lordosis and other skeletal abnormalities. Mortality is somewhat increased in childhood and after 40.
Intelligence is unaffected.
This mutation appears to affect the way the protein crosses the cell membrane. Without a functional receptor, a normal growth response to growth hormone cannot occur. Presymptomatic testing To establish a marker for ACH that can be used to identify hereditary carriers of the condition. Individuals at risk who wish prenatal diagnosis. Families considering future medical and disability insurance needs.