Wolf-Hirschhorn syndrome (WHS) is characterised by learning difficulties, epilepsy, growth delay and craniofacial dysgenesis.
Wolf-Hirschhorn syndrome (WHS) occurs due to partial deletion of the short arm of chromosome 4p. About half of patients have a de novo pure deletion of 4p16 and about 40%-45% have an unbalanced translocation with both a deletion of 4p and a partial trisomy of a different chromosome arm. These unbalanced translocations may be de novo or inherited from a parent with a balanced rearrangement.
- Severe growth restriction, microcephaly, hydrocephalus, corpus callosum agenesis.
- Severe mental retardation, severe limitation of comprehension and speech, seizures, ataxic gait, hypotonia, muscle hypertrophy.
- Microcephaly, a distinct “Greek warrior helmet” face with characteristic broad beaked nose, high frontal hairline and frontal bossing.
- Contracture of hands, wrists, and feet.
- Poor development of secondary sexual characteristics.
- Closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects).
- Hypoplasia of kidneys and genital tract. Diaphragmatic hernia with secondary lung hypoplasia.