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

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.
eMedicine - Wolf-Hirschhorn Syndrome
Detailed information on differential diagnosis, genetics, likely clinical history, and symptoms.
GeneReviews: Wolf-Hirschhorn Syndrome
Summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling and molecular genetics.
Online Mendelian Inheritance in Man
Features a list of reported case studies and symptoms, genetic information, and important references.
Orphanet: Wolf-Hirschhorn Syndrome
Provides information on this genetic disorder including the diagnostic criteria, differential diagnosis, clinical description, management and etiology. [PDF]
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Last update:
September 26, 2015 at 3:37:55 UTC
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