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Conradi-Hunermann syndrome (chondrodysplasia punctata-2, Happle syndrome)
Pathology:
1) ventricular septal defect
2) patent ductus arteriosus
3) asymmetric limb shortness
4) early punctate bone mineralization
5) large skin pores
Genetics: X-linked dominant
General
genetic syndrome (multisystem disorder)
developmental disorder syndrome (multisystem disorder)
X-linked disease
Database Correlations
OMIM 302960
References
Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038