Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Synonyms: 15q26.3 microdeletion syndrome
A rare syndromic ichthyosis characterized by a collodion membrane at birth generalized congenital ichthyosis microspherophakia myopia ectopia lentis short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.
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 May 2024
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Ichthyosis-short stature-brachydactyly-microspherophakia syndrome?
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