Congenital Abnormality
thanatophoric dysplasia
Subclass of:
Limb Deformities, Congenital;
Neonatal disorder;
Achondroplasia
Definitions related to thanatophoric dysplasia:
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A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate.NCI ThesaurusU.S. National Cancer Institute, 2021
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A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.GeneReviewsUniversity of Washington, 2021
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Thanatophoric dysplasia (TD) is the most common form of skeletal dysplasia that is lethal in the neonatal period. The term, thanatophoric, derives from the Greek word thanatophorus, which meansWebMD, 2019
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Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric...National Center for Advancing Translational Sciences
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