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Dr. Andrew Rynne
Dr. Andrew Rynne

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Exp 50 years

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Article Home Children's Health Campomelic Dwarfism

Campomelic Dwarfism

Campomelic dwarfism is a rare congenital genetic disorder affecting the skeletal system characterized by bowed tibia, underdeveloped shoulder blades and a flat face.


Campomelic dwarfism also called Campomelic syndrome is a rare congenital disorder with multiple anomalies characterized by bowing and angular shape of the long bones of the legs, especially the tibia, minor anomalies of the face, cleft palate, other skeletal anomalies such as   shoulder and pelvic area abnormalities and only eleven pairs of ribs are present, underdevelopment of the trachea; developmental delay in some cases and incomplete development of genitalia in males  appearing  to be that of females.

Campomelic Dwarfism


  • Campomelic Dwarfism
  • Campomelic Dysplasia,Campomelic Syndrome
  • Long-Limb Type Campomelic Dwarfism
  • Camptomelic Syndrome
  • SRY-Box 9
  • SOX9 Mutations Syndrome
  • Acampomelic campomelic "Dysplasia"at face.

Signs and symptoms

  • Retarded growth
  • Retarded bone maturation
  • Underdeveloped olfactory tract
  • Hydrocephalus
  • Small flat face
  • Large anterior fontanel
  • Cleft palate
  • Malformed ears
  • Bowed long bones
  • Clubfoot
  • Short flattened vertebrae
  • Underdeveloped shoulder blade
  • Missing ribs
  • Kyphoscoliosis
  • Small iliac wings Wide pelvic outlet
  • Absent mineralization of sternum
  • Lack of ossification of at epiphyses
  • Incomplete tracheobronchial cartilage development
  • Failure of masculine characteristics to develop
  • Gonadal dysgenesis Ovary development in males
  • Vagina development in males
  • Mullerian duct development in males
  • Failure to thrive
  • Apneic spells 


  • Neonatal death
  • Breathing problems


There is no specific treatment for this disease supportive and symptomatic treatment is given.