Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4 . About 55 % of cases are due to de novo terminal deletions , 40 % from unbalanced translocations and 5 % from other abnormalities . The facial phenotype is characterized by hypertelorism , protruding eyes , prominent glabella , broad nasal bridge and short philtrum . We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4 p 16 .3 ) compared to those with a large deletion (breakpoint more proximal than 4 p 16 .3 ). Further , fine-grained facial analysis of several individuals with an atypical genotype and /or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf-Hirschhorn syndrome facial phenotype .

Diseases
Validation

Diseases presenting "protruding eyes" symptom

wolf-hirschhorn syndrome

This symptom has already been validated