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Abnormality of limb bone
- ... the arms and legs, leading to the craniofacial abnormalities and shortened limbs seen in people with osteoglophonic dysplasia. This overactive FGFR1 protein can also increase the release (secretion) of a bone hormone called FGF23, resulting in abnormally high amounts ...
- ... gene mutations have been found to cause lower limb abnormalities, including an inward- and upward-turning foot (clubfoot) and absence or severe shortening of a bone in the lower leg called the tibia (tibial ...
- ... important for normal development, particularly the formation of bones in the face, spine, and limbs. These changes lead to the skeletal abnormalities characteristic of Robinow syndrome. A lack of this ...
- ... variety of signs and symptoms, which can include bone abnormalities; mottled or patchy skin coloring; and loss of fatty tissue under the skin, particularly affecting the limbs (type A lipodystrophy). The LMNA gene mutations that ...
- ... dihydroorotate dehydrogenase appears to be active in the limb buds during early development, it is not clear exactly how variants in the DHODH gene cause the specific bone abnormalities seen in people with Miller syndrome. More About ...
- ... of bone development is characterized by extremely short limbs, a narrow chest, ... abnormalities, and infants with achondrogenesis usually die before or ...
- ... the Parenti-Fraccaro type. This rare disorder of bone development is characterized by extremely short limbs, short fingers and toes, a narrow chest, and a prominent, rounded abdomen. Serious health problems result from these abnormalities, and infants with achondrogenesis usually die before or ...
- ... disruption of the BMP signaling pathway impair normal bone development and limb formation in babies with this condition. AFD1 Hsh49 ...
- ... disorder called gnathodiaphyseal dysplasia, which leads to fragile bones, jaw problems, and other skeletal abnormalities. The ANO5 gene mutations that cause gnathodiaphyseal dysplasia ...
- ... paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. Most of the mutations change a single protein ...
