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Fallot complex - intellectual disability - growth delay

Orpha number ORPHA3304
Synonym(s) Bindewald-Ulmer-Müller syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.

To date, five patients have been reported in two families.

Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of 2nd and 3rd toes have also been recorded. All five patients have severe intellectual deficiency.

The condition is probably hereditary, and is transmitted as an autosomal recessive trait.


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