WolfHirschhorn syndrome

WolfHirschhorn Syndrome is a genetic disorder caused by a  chromosomal deletion of the short arm of chromosome 4.

It is characterized by mental retardation, seizures, distinct facial appearance, and midline closure defects.

The following may be observed in patients with Wolf-Hirschhorn syndrome:

Pregnancy history

  • Intrauterine growth retardation
  • Decreased fetal movements
  • Hypotrophic placenta

Developmental history

  • Delayed psychomotor development
  • Difficulty in ambulation, often with ataxic gait
  • Seizures (50%)

Behavior history

  • Stereotypes (holding the hands in front of the face, hand-washing or flapping, patting self on chest, rocking, head-shaking, stretching of legs)
  • Absence of speech
  • Babbling or guttural sounds, occasionally modulated in a communicative way
  • Comprehension limited to simple orders or to a specific context
  • Affect disorder that improves over time
  • Walking with or without support
  • Self-feeding
  • Helps in dressing and undressing self
  • Improved abilities and adaptation to new situations
  • Communicative abilities and verbal comprehension with extension of the gesture repertoire and decreased occurrence of withdrawal and anxiety behaviors.

Children with Wolf-Hirschhorn syndrome to be more severely impacted cognitively than children from the other groups. The overall adaptive behavior in children with Wolf-Hirschhorn syndrome is lower compared with children with other subtelomeric deletions. Children with Wolf-Hirschhorn syndrome exhibit strengths in socialization skills comparable to the other groups. The proportion of children with Wolf-Hirschhorn syndrome with autism or autisticlike features is significantly lower than the rates of autism found in the other subtelomeric disorders.

Findings upon physical assessment:


  • Hypertelorism
  • Down-slanting palpebral fissures
  • Epicanthal folds
  • Strabismus
  • Coloboma
  • Proptosis due to hypoplasia of orbital ridges
  • Ectopic pupils
  • Exotropia
  • Ptosis
  • Microphthalmia
  • Megalocornea
  • Sclerocornea
  • Cataracts
  • Hypoplastic anterior chamber and ciliary body of iris
  • Persistence of lenticular membrane
  • Hypoplastic retina with formation of rosettes
  • Cup-shaped optic discs
  • Congenital nystagmus
  • Rieger anomaly


  • Broad or beaked nose
  • Nasolacrimal duct stenosis or atresia


  • Short upper lip
  • Short philtrum
  • Cleft lip or palate
  • Bifid uvula
  • Carplike mouth
  • Micrognathia
  • Retrognathia


  • Hypodontia


  • Low-set ears
  • Large, floppy, or misshapen ears
  • Microtia
  • Preauricular dimples
  • Chronic otitis media with effusion
  • Sensorineural hearing loss




  • Diastasis recti
  • Umbilical or inguinal hernias
  • Accessory spleens
  • Absent gallbladder
  • Diaphragmatic hernia


  • Hypoplastic kidneys
  • Cystic dysplastic kidneys
  • Unilateral renal agenesis
  • Hydronephrosis
  • Exstrophy of bladder
  • Hypoplastic external genitalia
  • Cryptorchidism and hypospadias in males
  • Hypoplastic müllerian derivatives (ie, agenesis of vagina, cervix, or uterus; hypoplastic uterus; ovarian streaks) in females


  • Long slender fingers with additional flexion creases
  • Long narrow chest
  • Hypoplastic widely spaced nipples
  • Hypoplasia or duplication of thumbs and great toes
  • Talipes equinovarus
  • Hypoplasia of pubic bones
  • Vertebral and rib anomalies
  • Defective calvaria ossification
  • Scoliosis
  • Kyphosis
  • Osteoporosis
  • Delayed bone maturation
  • Sacral dimple

Immune system

  • Infection-prone
  • Immunodeficiency


  • Hypoplastic dermal ridges
  • Transverse palmar creases (25%)
  • Excess of digital arches
  • t or t’

Fetal phenotype

  • Minor anomalies – Scalp defect, hypertelorism usually with a prominent glabella, pulmonary isomerism, common mesentery, hypospadias, sacral dimple
  • Major anomalies – Intrauterine growth retardation, microcephaly, cleft palate, corpus callosum agenesis, ventricular septal defect, diaphragmatic hernia, renal hypoplasia
Wolf-Hirschhorn syndrome is caused by a deletion in the terminal band of the short arm of chromosome 4 (band 4p16.3) and is considered a contiguous gene syndrome.[8] The cause in 87% of cases is a de novo interstitial deletion of preferential paternal origin. The remaining 13% are due to unbalanced product of a parental chromosomal rearrangement, usually of a reciprocal translocation.

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