Hutterite syndrome bowen-conradi type is a condition that affects numerous body systems and usually results in infant death. Affected people have low birth weights, struggle with eating, and grow very slowly. Their head is longer than expected relative to its width despite having an extremely small head overall (microcephaly) (dolichocephaly). A broad, high-bridged nose and an exceptionally small jaw (micrognathia  Read More

Trichorhinophalangeal syndrome type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) "pear-shaped" nose, an abnormally sma  Read More