Ichthyosis-oral and digital anomalies syndrome
Synonyms: Clayton Smith-Donnai syndrome
Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Ichthyosis-oral and digital anomalies syndrome?
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