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Disease characteristics

Excerpted from the GeneReview: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome (WHS) is characterized by typical craniofacial features in infancy consisting of 'Greek warrior helmet appearance' of the nose (the broad bridge of the nose continuing to the forehead), microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, highly arched eyebrows, short philtrum, downturned mouth, micrognathia, and poorly formed ears with pits/tags. All affected individuals have prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment. Developmental delay/intellectual disability of variable degree is present in all. Seizures occur in 50% to 100% of children with WHS. Other findings include skeletal anomalies (60%-70%), congenital heart defects (~50%), hearing loss (mostly conductive) (>40%), urinary tract malformations (25%), and structural brain abnormalities (33%).

Available tests

35 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: RP11-262P20.3, MMSET, NSD2, REIIBP, TRX5, WHS, WHSC1
    Summary: Wolf-Hirschhorn syndrome candidate 1

Clinical features

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  • Small for gestational age
  • Precocious puberty
  • Intellectual disability, severe
  • Strabismus
  • EEG abnormalities
  • Decreased fetal movement
  • High forehead
  • Short stature
  • Aplasia of the uterus
  • Sacral dimple
  • Epicanthus
  • Arachnodactyly
  • Agenesis of corpus callosum
  • Decreased muscle mass
  • Periventricular cysts
  • Preauricular pit
  • Talipes equinovarus
  • Hyperconvex fingernails
  • Kyphosis
  • Microcephaly
  • Short upper lip
  • Tethered cord
  • Short hallux
  • Intrauterine growth retardation
  • Dolichocephaly
  • Aplasia cutis congenita of scalp
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Generalized hypotonia
  • Ventricular septal defect
  • Abnormal sternal ossification
  • Malrotation of small bowel
  • Prominent glabella
  • Short philtrum
  • Cavum septum pellucidum
  • Proptosis
  • Incoordination
  • Low posterior hairline
  • Downslanted palpebral fissures
  • Downturned corners of mouth
  • Recurrent respiratory infections
  • Micrognathia
  • Single transverse palmar crease
  • Seizure
  • Hydrocephalus
  • Nystagmus
  • Rib segmentation abnormalities
  • Cleft palate
  • Failure to thrive
  • Reduced bone mineral density
  • Aplasia/Hypoplasia of the nipples
  • High anterior hairline
  • Cryptorchidism
  • Hypospadias
  • Abnormality of the kidney
  • Cleft upper lip
  • Hypertelorism
  • Abnormality of the pinna
  • Preauricular skin tag
  • Otitis media
  • Stenosis of the external auditory canal
  • Conductive hearing impairment
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Convex nasal ridge
  • Webbed neck
  • Megalocornea
  • Retinopathy
  • Ptosis
  • Rieger anomaly
  • Iris coloboma
  • Sclerocornea
  • Optic atrophy
  • Hypodontia
  • Stereotypic behavior
  • Congenital diaphragmatic hernia
  • Rib fusion
  • Hemangioma
  • Biliary tract abnormality
  • Split hand
  • Preaxial hand polydactyly
  • Global developmental delay
  • Absent septum pellucidum
  • Skull defect
  • Hip dysplasia
  • Disproportionate tall stature
  • Defect in the atrial septum
  • Abnormality of the heart valves
  • Accessory spleen
  • Metatarsus adductus
  • Preaxial foot polydactyly
  • Frontal bossing
  • Gastroesophageal reflux
  • Ventriculomegaly
  • Highly arched eyebrow
  • Scoliosis
  • Immunodeficiency
  • Delayed skeletal maturation
  • Hip dislocation
  • Vertebral fusion
  • Radioulnar synostosis
  • Abnormal form of the vertebral bodies
  • Abdominal situs inversus
  • Craniofacial asymmetry
  • Abnormality of the gallbladder
  • Aplasia/Hypoplasia of the lungs
  • Aplasia/Hypoplasia of the cerebellum
  • Severe postnatal growth retardation
  • Pseudoepiphyses of the metacarpals
  • Short thumb
  • Ectopia pupillae
  • Abnormality of movement
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