Summary Occipito-facial-cervico-thoracic-abdomino-digital dysplasia, or Jarcho and Levin syndrome of vertebral anomalies, may be characterized as a specific entity in which the salient features are short trunk, dwarfism with relatively long extremities, prominent occiput, dolichocephaly, short neck with low-growing hair posteriorly, round face, broad forehead, mongolian palpebral slant, wide nasal bridge, anteverted nares, prominent philtrum, and inverted V-shaped mouth. The abdomen is protuberant and displays a decreased muscular tone. Hernias are frequently present. The toes and fingers are long, with instances of malformations, such as camptodactyly, partial cutaneous syndactyly, and hammer toes. The “crab-like” radiologic image of the thorax is diagnostic. Variable degrees of kyphosis or kyphoscoliosis are present, as well as hemivertebrae, spina bifida, and abnormally shaped ribs, which are decreased in number. The mode of inheritance is probably autosomal recessive. The condition is lethal in infancy.