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)
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