GTR Home > Conditions/Phenotypes > Camptomelic dysplasia

Disease characteristics

Excerpted from the GeneReview: Campomelic Dysplasia
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and club feet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional problems identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.

Associated genes

Clinical features

  • Apnea
  • High forehead
  • Short palpebral fissure
  • Thin ribs
  • Fibular hypoplasia
  • 11 pairs of ribs
  • Talipes equinovarus
  • Hypoplastic iliac wings
  • Small face
  • Hypoplastic cervical vertebrae
  • Absent sternal ossification
  • Anterior tibial bowing
  • Wide anterior fontanel
  • Micrognathia
  • Hydrocephalus
  • Cleft palate
  • Macrocephaly
  • Failure to thrive
  • Hydronephrosis
  • Hypertelorism
  • Hearing impairment
  • Low-set ears
  • Blepharophimosis
  • Hypoplastic scapulae
  • Muscular hypotonia
  • Polyhydramnios
  • Respiratory distress
  • Malformation of the heart and great vessels
  • Kyphoscoliosis
  • Tracheobronchomalacia
  • Hip dislocation
  • Shortening of all phalanges of the toes
  • Thoracic hypoplasia
  • Depressed nasal bridge
  • Poorly ossified cervical vertebrae
  • Neonatal short-limb short stature
  • Shortening of all phalanges of fingers
  • Sex reversal
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