Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.
- Albuminuria
- Breech presentation
- Talipes equinovarus
- Cryptorchidism
- Dysphagia
- Patent ductus arteriosus
- Glaucoma
- Sensorineural hearing impairment
- Ventricular septal defect
- Hepatomegaly
- Hydronephrosis
- Hypertelorism
- Macroglossia
- Micrognathia
- Hypotonia
- Nystagmus
- Seizure
- Intellectual disability, severe
- Cataract
- Clitoral hypertrophy
- Cubitus valgus
- Unsteady gait
- Feeding difficulties
- Areflexia
- Aminoaciduria
- Low-set ears
- Round face
- High forehead
- High palate
- Congenital vertical talus
- Protruding tongue
- Ulnar deviation of the hand
- Pulmonary hypoplasia
- Polymicrogyria
- Gray matter heterotopia
- Upslanted palpebral fissure
- Opacification of the corneal stroma
- Single transverse palmar crease
- Posteriorly rotated ears
- Delayed speech and language development
- Abnormal electroretinogram
- Delayed skeletal maturation
- Optic disc pallor
- Global developmental delay
- Epicanthus
- Hyporeflexia
- Hypospadias
- Frequent falls
- Brushfield spots
- Hearing impairment
- Subependymal cysts
- Loss of ambulation
- Flat occiput
- High, narrow palate
- Anteverted nares
- Redundant neck skin
- Intellectual disability, progressive
- Adrenal hypoplasia
- Widely patent fontanelles and sutures
- Flat face
- Abnormal helix morphology
- Brachyturricephaly
- Malar flattening
- Generalized hypotonia
- Epiphyseal stippling
- Hypoplastic olfactory lobes
- Intrahepatic biliary dysgenesis
- Prolonged neonatal jaundice
- Elevated circulating long chain fatty acid concentration
- Aplasia/Hypoplasia of the corpus callosum
- Bell-shaped thorax
- Renal cortical microcysts
- Wide anterior fontanel
- Macrocephaly
- Failure to thrive
- Ulnar deviation of the hand or of fingers of the hand
- Metatarsus adductus
- Neonatal respiratory distress
- Cerebral cortical atrophy
- Pigmentary retinopathy
Show allPeroxisome biogenesis disorder 1A (diagnosis/ clinical suspition/ etiology investigation/ classification)
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