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Genetic and Rare Diseases Information Center (GARD)

Zellweger syndrome

Other Names for this Disease
  • Cerebrohepatorenal syndrome
  • CHR
  • ZWS
  • ZS
  • Zellweger leukodystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


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What are the signs and symptoms of Zellweger syndrome?

The signs and symptoms of Zellweger syndrome typically become apparent within the first few hours or days of life. Affected newborns often have poor muscle tone (hypotonia); seizures; feeding difficulties; liver cysts with liver dysfunction; vision loss; hearing loss; and distinctive facial characteristics including a flattened face, broad nasal bridge, high forehead, upslanting palpebral fissures, and epicanthal folds.[1][2][3] Some people also have an abnormally small or large head size (microcephaly or macrocephaly, respectively); protruding tongue; neck skin folds; cataracts; glaucoma; and/or nystagmus.[4839] Many affected infants have skeletal abnormalities, which may include a large space between the bones of the skull and bone spots known as chondrodysplasia punctata that can be seen with an X-ray.[2] The function of the central nervous system (brain and spinal cord) is typically severely affected.[3] Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys.[2]
Last updated: 12/7/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Zellweger syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the fontanelles or cranial sutures 90%
Cognitive impairment 90%
Depressed nasal bridge 90%
EEG abnormality 90%
Epicanthus 90%
Epiphyseal stippling 90%
External ear malformation 90%
Feeding difficulties in infancy 90%
Hepatic failure 90%
Hepatomegaly 90%
High forehead 90%
Malar flattening 90%
Muscular hypotonia 90%
Opacification of the corneal stroma 90%
Respiratory insufficiency 90%
Short stature 90%
Skeletal dysplasia 90%
Upslanted palpebral fissure 90%
Abnormality of calvarial morphology 50%
Abnormality of neuronal migration 50%
Abnormality of the palate 50%
Cataract 50%
Chorioretinal abnormality 50%
Cryptorchidism 50%
Displacement of the external urethral meatus 50%
Female pseudohermaphroditism 50%
Macrocephaly 50%
Malabsorption 50%
Microcephaly 50%
Multicystic kidney dysplasia 50%
Nystagmus 50%
Optic atrophy 50%
Posterior embryotoxon 50%
Premature birth 50%
Pyloric stenosis 50%
Seizures 50%
Sensorineural hearing impairment 50%
Underdeveloped supraorbital ridges 50%
Visual impairment 50%
Abnormality of coagulation 7.5%
Abnormality of the tongue 7.5%
Brushfield spots 7.5%
Glaucoma 7.5%
Primary adrenal insufficiency 7.5%
Thickened nuchal skin fold 7.5%
Ventricular septal defect 7.5%
Abnormal electroretinogram -
Abnormality of the helix -
Adrenal hypoplasia -
Albuminuria -
Aminoaciduria -
Anteverted nares -
Aplasia/Hypoplasia of the corpus callosum -
Areflexia -
Autosomal recessive inheritance -
Bell-shaped thorax -
Brachyturricephaly -
Breech presentation -
Cubitus valgus -
Delayed skeletal maturation -
Elevated long chain fatty acids -
Failure to thrive -
Flat face -
Flat occiput -
Heterogeneous -
Heterotopia -
High palate -
Hydronephrosis -
Hypertelorism -
Hypoplastic olfactory lobes -
Hyporeflexia -
Hypospadias -
Intellectual disability, progressive -
Intellectual disability, severe -
Intrahepatic biliary dysgenesis -
Macroglossia -
obsolete Clitoromegaly -
Optic disc pallor -
Patent ductus arteriosus -
Pigmentary retinopathy -
Polymicrogyria -
Posteriorly rotated ears -
Prolonged neonatal jaundice -
Protruding tongue -
Pulmonary hypoplasia -
Renal cortical microcysts -
Rocker bottom foot -
Round face -
Single transverse palmar crease -
Subependymal cysts -
Talipes equinovarus -
Ulnar deviation of the hand or of fingers of the hand -
Widely patent fontanelles and sutures -

Last updated: 6/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

  1. Steven J Steinberg, PhD, Gerald V Raymond, MD, Nancy E Braverman, MS, MD, and Ann B Moser, BA. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. May 2012;
  2. Zellweger spectrum. Genetics Home Reference. June 2015;
  3. Zellweger syndrome. Orphanet. December 2012;

Other Names for this Disease
  • Cerebrohepatorenal syndrome
  • CHR
  • ZWS
  • ZS
  • Zellweger leukodystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.