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Ichthyosis - oral and digital anomalies

Orpha number ORPHA2272
Synonym(s) Clayton Smith-Donnai syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10 -
ICD-O -
OMIM
UMLS
  • C1850268
MeSH -
MedDRA -

Summary

This 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.


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Detailed information

Practical genetics
  • EN (2013,pdf)
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