/Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome

Rare Disease

MONDO:0008684

Also Known As

4p deletion syndrome4p- syndromePitt syndromePitt-Rogers-Danks syndromeWittwer syndromeWolf-Hirschhorn syndromeWolf-Hirschhorn syndrome, Isolated caseschromosome 4p16.3 deletion syndromedistal deletion 4pdistal monosomy 4ptelomeric deletion 4p4p syndromeWHSWolf syndromechromosome 4P16.3 deletion syndromechromosome 4p syndromemicrocephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation

Definition

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.