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Harrod syndrome

ORPHA2115
Synonym(s) Cranio-facio-digito-genital syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal
Infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.

So far, it has been described in three males (including two brothers).

The etiology remains unknown and an autosomal recessive mode of transmission has been suggested.


Last update: November 2009

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