Symptoms Of Cranioectodermal Dysplasia: Causes And Treatment

Cranioectodermal dysplasia is a genetic disorder affecting different parts of body. It is a rare disease displaying abnormality of bones and ectodermal tissues such as hair, skin, nails, and teeth. Also known by other names such as Sensenbrenner syndrome and Levin syndrome 1, the underlying cause in majority of cases is gene mutation.

Structural abnormality of face features and skull bone are prominently seen in this disorder. The bones of hands and legs are short causing short stature of the person. Cranioectodermal dysplasia can affect vital organs such as kidney and lungs leading to their malfunction.

Patient with this condition needs multifaceted treatment which includes surgical correction of the body abnormality, medicines to address organ malfunction, growth hormone therapy, etc. Although with all the treatment measures prognosis of cranioectodermal dysplasia is poor. Most children do not survive into adulthood. The cause of death is usually renal failure or respiratory failure.

What Causes Cranioectodermal Dysplasia?

Cranioectodermal dysplasia is a rare genetic disorder. It is caused due to mutation in any one of the 4 genes such as WDR19, IFT122, IFT43 and WDR35.  Due to its rarity, the exact prevalence of this condition is not clearly known.

Only 50 to 60 cases have been described with various facial and skeletal abnormalities in this disorder.

Both males and females infant are born with several anomalies of this disorder. Since there is abnormality in genes, the key risk factor is presence of family history of this condition. It is an inherited condition having autosomal recessive pattern. This means the disease occurs if both the copies of gene are defective.

Signs And Symptoms Of Cranioectodermal Dysplasia

The signs and symptoms may vary in the newborn even if he belongs to the family having history of this disorder. This condition affects many parts of body.

Abnormal facial features:

  • Large and prominent forehead with an elongated head because of abnormal fusion of skull bones.
  • Increased distance between the inner corners of eyes.
  • Outer corner of eyes is abnormally bent upwards or downwards.
  • Abnormal placement of ears. They may be located very low and may be rotated backwards.
  • Nostril is turned upwards.
  • Very less hair growth.
  • Dental anomalies such as missing teeth or teeth are too small.

Abnormalities noted in the skeletal system:

  • Short hands and legs. This leads to short stature.
  • Finger size is abnormally short.
  • The rib bones are short. This leads to small rib cage which prevents proper lung expansion giving rise to distressed breathing.

Dysfunction of kidney leading to:

  • Renal insufficiency due to kidney damage. The first signs of kidney failure are evident around the age of 2 years.
  • In the beginning, patient may experience excessive urination and too much thirst for water due to dilution of urine.
  • Progressively there is loss of protein in urine, bloody urine, loss of electrolyte which may cause weakness and profound debility.

Liver abnormalities:

  • Enlarged liver
  • Jaundice
  • Fibrosis of liver

Lung malfunction:

  • Asthma
  • Breathing difficulty
  • Recurrent respiratory infection.
  • Reduced lung expansion due to small sized thoracic cage.

Treatment Of Cranioectodermal Dysplasia

The child born with cranioectodermal dysplasia needs multifaceted treatment measures which include:

  • Surgical repair of various anomalies associated with hands, legs and fingers.
  • Growth hormone treatment to stimulate growth of the child.
  • Dental care is important as it improves functional issues associated with missing teeth and other teeth abnormalities.
  • Physical therapy to improve the range of motion and strengthen the skeletal muscles and bones.
  • Correction of vision with help of several vision aids.
  • Renal transplant for end stage renal failure.
  • Surgical repair of inguinal hernia as this is common among children born with cranioectodermal dysplasia.
  • Antibiotics as and when required reducing recurrent respiratory tract infection.

The prognosis of cranioectodermal dysplasia is poor. Many children die due to respiratory infections and kidney failure in the first few years of life. Those who survive in their infancy may need frequent hospitalization because of their illness. Majority of children die in their childhood age.