The purpose of this protocol is to collect protein, DNA, and RNA from blood and/or tissue samples as well as urine samples of patients with Pentalogy of Cantrell or other diseases that could involve mutation of any of the genes encoding nonmuscle myosin heavy chains (NMHC IIA on chromosome 22, IIB on chromosome 17 or IIC on chromosome 19). Mutation of nonmuscle myosin IIA have been shown to result in human defects involving blood platelets, kidney, hearing and sight (Epstein's Syndrome, May-Hegglin/Fechtner Syndrome). Defects in patients with mutations in nonmuscle myosin IIB are not known yet. However, we have produced a putative mouse model with the mutant mice exhibiting problems with ventral wall closure, and extrathoracic location of heart (ectopia cordis), guts and liver. The mice had severe defects in both the heart and brain, and resemble humans born with the syndrome Pentalogy of Cantrell, who manifest these same abnormalities. With respect to the recently discovered nonmuscle myosin IIC, we are currently in the process of making a mouse model.

• INCLUSION CRITERIA:

Those patients who have Pentalogy of Cantrell (as defined under STUDY DESIGN) or other diseases that could involve mutation of any of the nonmuscle myosin genes that will be defined in future amendments.

Outside Institutions- All ages will be included

At the Clinical Center-Those subjects that are greater than or equal to 2 years of age and older.

Mouse model suggests that humans with Pentalogy of Cantrell may have defects in the nonmuscle myosin IIB gene. These patients are born with an omphalocoele, diaphragmatic hernia, ectopia cordis and other defects. During the correction of some of these defects, tissue is removed during birth and we hope to obtain some of this tissue. As for patients with mutation of nonmuscle myosin IIA, the defects involve blood platelets, kidney, hearing and sight and we can obtain samples from adults. Defects in patients with mutations in nonmuscle myosin IIB are not known yet and, therefore, we do not know if we will need samples from children.

We may obtain samples from family members and/or relatives of those individuals who have mutations for genotyping and/or the analysis of proteins or DNA/RNA in the future. Only family members who have a myosin IIB mutation will be further examined.

Patients and family who have the genotype of interest will undergo examination as listed above under Baseline Evaluation for Screening.

EXCLUSION CRITERIA :

In screening for subjects who may be asymptomatic, but who could be carrying the gene, we will exclude all children under the age of 2.