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

  • low posterior hairline
  • high-arched eyebrows
  • sparse medial eyebrows
  • microcephaly
  • cranial asymmetry
  • posterior midline scalp defects
  • prominent glabella
  • short philtrum
  • micrognathia
  • high forehead
  • accessory tragus (preauricular tags)
  • preauricular pits
  • hearing loss
  • narrow external auditory canals
  • strabismus
  • hypertelorism
  • epicanthal folds
  • exophthalmus
  • ptosis
  • Rieger anomaly
  • nystagmus
  • iris coloboma
  • corectopia
  • wide nasal bridge
  • beaked nose
  • cleft lip
  • cleft palate
  • downturned corners of mouth
  • short upper lip
  • hypodontia
  • webbed neck

- cardiovascular anomalies

  • atrial septal defect
  • ventricular septal defect
  • right ventricular hypoplasia

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

- digestive anomalies

  • intestinal malrotation
  • gastroesophageal reflux

- congenital diaphragmatic hernia (#15108210#)

- genitourinary anomalies

  • hypospadias
  • cryptorchidism
  • uterine agenesis (absent uterus)

- 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#