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Otopalatodigital syndrome

Orpha number ORPHA669
Synonym(s) Taybi syndrome
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome (see this term), characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2; see these terms). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.


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Detailed information

Practical genetics
  • EN (2006,pdf)
Clinical genetics review
  • EN (2013)
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