Home > D. Systemic pathology > Genetic and developmental anomalies > 4p- syndrome

4p- syndrome

MIM.194190

Wednesday 1 October 2003

Wolf-Hirschhorn syndrome (MIM.194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4 (sporadic inheritance).

Synopsis

- systemic anomalies

  • low birth weight
  • marked growth retardation
  • failure to thrive

- craniofacial anomalies

- cardiovascular anomalies

- sternal ossification center abnormalities
- fused ribs
- absence of gall bladder
- accessory spleen

- digestive anomalies

  • intestinal malrotation
  • gastroesophageal reflux

- congenital diaphragmatic hernia (15108210)

- genitourinary anomalies

- skeletal system anomalies

  • delayed bone age
  • sacral dimple
  • sacral sinus
  • scoliosis
  • kyphosis
  • fused vertebrae
  • bifid vertebrae
  • hip dislocation
  • absence of pubic rami
  • thin limbs
  • radioulnar synostosis
  • transverse palmar creases
  • accessory proximal metacarpal ossification centers
  • talipes equinovarus
  • metatarsus adductus
  • polydactyly
  • posterior midline scalp defects
  • sacral dimple
  • hyperconvex fingernails

- cerebral anomalies

  • cavum septum pellucidum
  • absent septum pellucidum
  • interventricular cysts
  • hydrocephalus

- placental chorioangioma (2062819)
- jugular lymphatic obstruction sequence (2062819)

  • cystic hygroma

Cytogenetics

- Partial deletion of short arm of chromosome 4 (4p-)

Etiology

- Locus: 4p16.1

References

- Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005 Mar;21(3):188-95. PMID: 15734578

- Fernandes BJ, Gardner HA, Bedard YC. The 4p- syndrome—an autopsy study. Hum Pathol. 1980 Nov;11(6):683-5. PMID: 7450742