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Harrod syndrome

Disease definition

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.

ORPHA:2115

  • Synonym(s):
    • Cranio-facio-digito-genital syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 601095
  • UMLS: -
  • MeSH: -
  • GARD: 2601
  • MedDRA: -

Summary

Epidemiology

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

Etiology

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

- Last update: November 2009

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