Diseases title

Harrod syndrome )

Chromosome
Orpha Number: 2115
Synonym(s):
Cranio-facio-digito-genital syndrome

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.
source: Orphanet