Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

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Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

Synonyms: Goodman camptodactyly

An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly becoming evident at around the age of 10 camptodactyly and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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