Acrodysostosis: Causes, Symptoms, Diagnosis and Treatments

Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, mental deficiency in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back i.e. brachycephaly), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, Intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.

Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in a autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with older parental age.

Causes of Acrodysostosis

Acrodysostosis is thought to be a genetic disorder though the real causes have not been identified. There can be a number of genetic problems behind its occurrence. It is known to happen more with the older parents. In most of the case, the disease has no hereditary routes. But in certain cases, it can be passed down to the kid from the parents. Parents who suffer from this disorder have a 50% possibility of transmitting the disease to the children. However, the exact genes that cause this disorder have not been identified.

Acrodysostosis Symptoms

  • Frequent middle ear infections
  • Growth problems, short arms and legs
  • Hearing problems
  • Mental deficiency
  • Unusual looking face

Signs and tests:

A physical exam confirms this disorder.

Findings may include:

  • Advanced bone age
  • Bone deformities in hands and feet
  • Delays in growth
  • Problems with the skin, genitals, teeth, and skeleton
  • Short arms and legs with small hands and feet
  • Short head, measured front to back (brachycephaly)
  • Short height
  • Small, upturned broad nose with flat bridge
  • Unusual features of the face (short nose, open mouth, jaw that sticks out)
  • Unusual head
  • Wide-spaced eyes (hypertelorism), sometimes with extra skin fold at corner of eye

In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:

  • Abnormally short fingers and toes (brachydactyly)
  • Early growth of bones in the hands and feet
  • Short bones
  • Shortening of the forearm bones near the wrist

Home Diagnostic Testing

These home medical diagnostic tests may be relevant to Acrodysostosis:

  • Child Behavior: Home Testing
    • ADHD — Home Test Kits
    • Concentration — Home Testing
  • Child General Health: Home Testing
    • Asthma-Related Home Tests
    • Home Allergy Tests
    • Home Cold & Flu Tests
    • Home Diabetes Tests
    • Home Drug Tests
    • Sleep Apnea Tests
    • Home Strep A Tests
    • Home Hearing Tests
    • Home Ear Infection Tests
  • Cold & Flu: Home Testing:
    • Home Fever Tests
    • Home Ear Infection Test Kits
    • Home Flu Tests
  • Brain & Neurological Disorders: Related Home Testing:
    • ADHD — Home Tests
    • Drug Screening Kits

Acrodysostosis Treatments

Treatment depends on the physical and mental problems that occur.

Orthopedic care, early intervention, and special education are recommended.

Disclaimer: This content including advice provides generic information only. It is in no way a substitute for qualified medical opinion. Always consult a specialist or your own doctor for more information. NDTV does not claim responsibility for this information.

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