Wolf-Hirschhorn syndrome was first documented in 1961: a child with midline fusion defects. Subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. Clinical features include mental retardation, seizures, distinct facial appearance, and midline closure defects. The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, now are considered as a part of Wolf-Hirschhorn syndrome.
Related categories 2
Sites 5
Loading new listings for you to review...
- 4P- Support Group, Inc. USA-based non-profit association of families of children with 4p-, offering phone support, newsletters, national biannual gathering and regional meetings.
- Orphanet: Wolf-Hirschhorn Syndrome Provides information on this genetic disorder including the diagnostic criteria, differential diagnosis, clinical description, management and etiology.
- eMedicine - Wolf-Hirschhorn Syndrome Detailed information on differential diagnosis, genetics, likely clinical history, and symptoms.
- Online Mendelian Inheritance in Man Features a list of reported case studies and symptoms, genetic information, and important references.
- GeneReviews: Wolf-Hirschhorn Syndrome Summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling and molecular genetics.