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Digitorenocerebral syndrome

Orpha number ORPHA1674
Synonym(s) Eronen-Somer-Gustafsson syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Digitorenocerebral syndrome is characterized by absence of the nails and distal phalanges of the toes and fingers, renal anomalies (cystic dysplasia or duplication), and cerebral anomalies (ventriculomegaly or seizures). It has been described in less than 10 cases. One family included three affected patients, among which two died in early infancy. The mode of inheritance is most likely autosomal recessive. The existence of this condition as a distinct syndromic entity is still under debate, as the clinical features have been likened to those of the DOOR syndrome (see this term). If the autonomy of the syndrome were to be confirmed, variable expression of the renal and cerebral manifestations should be emphasized.


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