Acampomelic campomelic dysplasia is a rare genetic syndrome affecting bone and connective tissues. It is characterized by the absence of long bone curvature that is also known as acampomelia. It is a variant of another syndrome which is more commonly encountered in the clinical practice known as campomelic dysplasia. Children are common suffers.

They show characteristically flat facial profile and often present with respiratory distress. They all have noticeably hypoplastic scapula. The only difference between the Acampomelic campomelic dysplasia and campomelic dysplasia is the absence of the bowed lower limbs or legs. It is an autosomal dominant skeletal malformation syndrome. It is caused due to mutations in the SOX9 gene with 17q rearrangements involvement.

Signs and Symptoms

• Dwarfism which is prenatal in onset
• Low birth weight
• Failure to thrive
• Polyhydramnios
• Small chondocrnium
• Macrocephaly
• Large head
• Hypertelorism
• Micrognathia
• Hypoplastic scapulae
• Kyphoscoliosis
• Hypoplastic cervical vertebrae
• Narrow and small iliac wings
• Pelvic outlet widened
• Ischipubic ramie poorly developed
• Ischia widely separated
• Subluxation of the hips
• Phalanges short
• Fibula short
• Club feet
• Patent ductus arteriosus
• Ventricular septal defects
• Aortic coarctation
• Tracheomalacia
• Bronchomalacia
• Pulmonary hypoplasia
• Hydronephrosis
• Hydroureters
• Renal cysts
• Glomerulocysts

Diagnosis and Investigations

Diagnosis is mainly by the clinical features and detection of gene mutation in SOX 9 gene confirms the diagnosis. Further investigations like plain skiagrams and other imaging modalities may be used to detect other hidden abnormalities and to confirm and plan treatment for the complications caused due to the pre-existing conditions.

Treatment and Drugs

Early detection will help in the management of the complications of the disease. But the mainstay of the treatment will depend on the clinical condition and the complications person is having. Thus the management of the disease will differ from patient to patient.