GTR Home > Conditions/Phenotypes > Rhizomelic chondrodysplasia punctata type 1

Disease characteristics

Excerpted from the GeneReview: Rhizomelic Chondrodysplasia Punctata Type 1
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) classic type, a peroxisome biogenesis disorder (PBD), is characterized by proximal shortening of the humerus and to a lesser degree the femur (rhizomelia), punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in the first few months of life. Birth weight, length, and head circumference are often at the lower range of normal; postnatal growth deficiency is profound. Intellectual disability is severe, and the majority of children develop seizures. Most affected children do not survive the first decade of life; a proportion die in the neonatal period. A milder phenotype in which all affected individuals have congenital cataracts and chondrodysplasia is now recognized; some do not have rhizomelia, and some have less severe intellectual disability and growth deficiency.

Associated genes

Clinical features

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  • Alopecia
  • Respiratory insufficiency
  • Congenital cataract
  • Intellectual disability
  • Microcephaly
  • Flat face
  • Severe failure to thrive
  • Rhizomelia
  • Calcific stippling of infantile cartilaginous skeleton
  • Coronal cleft vertebrae
  • Malar flattening
  • Micrognathia
  • Seizure
  • Cleft palate
  • Sensorineural hearing impairment
  • Upslanted palpebral fissure
  • Spasticity
  • Flexion contracture
  • Abnormality of metabolism/homeostasis
  • Frontal bossing
  • Cerebral cortical atrophy
  • Delayed CNS myelination
  • Kyphoscoliosis
  • Flared metaphyses
  • Severe short stature
  • Depressed nasal bridge
  • Ichthyosis
  • Epiphyseal stippling
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