Coffin Siris Syndrome

What is Coffin Siris Syndrome?

Coffin Siris Syndrome is a very rare genetic health disorder. There have been 31 recorded cases of this syndrome up until 1991. Since then, many more people have been reported to be affected by this syndrome and the number has gone up to around 80.

This syndrome causes delay in the development of human body and also the absence of the fifth finger and toe-nails.

Coffin Siris Syndrome Synonyms

Coffin Siris Syndrome is also known as:

  • Fifth Digit Syndrome
  • Dwarfism-Onychodysplasia
  • Short Stature-Onychodysplasia
  • Mental Retardation with Hypoplastic 5th Fingernails and Toenails

Coffin Siris Syndrome Symptoms

This genetic syndrome may be evident at the time of birth. Following are some of the symptoms of this disorder.

Common Symptoms

  • Short fifth fingers and toes with underdeveloped (hypoplastic) or absent nails
  • Feeding difficulties in newborns
  • Low birth weight
  • Frequent respiratory infections in infants
  • Delay in maturity of bones during childhood
  • Hypotonia
  • Mental deficiency
  • Joint laxity
  • Global Developmental Delay
  • Coarseness of facial features like wide mouth, wide nose and thick eyebrows and eyelashes
  • Microcephaly
  • Elbow dislocation
  • Small patellae
  • Sparse scalp hair
  • Hirsuitism
  • Small head
  • Reduced muscle tone
  • Flat nasal bridge
  • Small patellae
  • Absence of terminal phalanges

Rare Symptoms

  • Preauricular skin tag
  • Drooping upper eyelid
  • Eyes close together
  • Choanal atresia
  • Hemangioma
  • Short sternum
  • Umbilical and Inguina hernia
  • Patent ductus arteriosus
  • Tetralogy of Fallot
  • Gastric ulcer
  • Neonatal intussusception
  • Dandy-Walker anomaly of brain
  • Ectopic kidney
  • Renal anomalies
  • Short forearm
  • Aberrant pulmonary vein
  • Atrial septal defect
  • Ventricular and Atrial septal defect

Coffin Siris Syndrome Causes

Autosomal recessive inheritance (genetic inheritance) is the most common cause of this syndrome. However, autosomal dominant (occurring at random) and sporadic mutation (having one mutant gene causing the syndrome) cases have also been recorded.

Coffin Siris Syndrome Demographics

More than 50 people are recorded to be affected by this syndrome at present. Females are more prone to this condition than males. The female-male ratio of this disease is 3:1. The parents and siblings of an affected child can be perfectly healthy and free from this syndrome.

Coffin Siris Syndrome Diagnosis

The diagnosis of this syndrome is done based upon different clinical findings as no laboratory tests can accurately confirm this disorder. It can be best indicated by the x-ray of the hand revealing the missing fifth finger bones. Neonatal ultrasounds can be used to understand the abnormal formation of kidney and other organs which may indicate the presence of this disease. However, the presence of these symptoms alone does not confirm the presence of this syndrome. Definitive diagnosis of the Coffin Siris Syndrome is difficult due to its rarity, variability and wide range of symptoms.

Coffin Siris Syndrome Parental Diagnosis

No tests can accurately diagnose this syndrome during pregnancy due to its indefinite causes. There are no specific antenatal ultrasound scan findings to make a diagnosis.

Coffin Siris Syndrome Treatment

The treatment of the Coffin Siris Syndrome in children may vary depending on the different symptoms present in the patient. However, no treatment can completely cure the Coffin Siris Syndrome. In some cases, surgery is required to cure some malfunctions caused by this disorder. These include cleft palate repair surgery and various renal and cardiac surgeries. Affected children may also require special education and speech therapy depending on their developmental delay and mental retardation. The patient should keep regular contact with pediatricians and other health professionals who will be able to identify and treat different symptoms at an early stage.

Coffin Siris Syndrome Life Expectancy

The patients of Coffin Siris Syndrome usually have reasonably long life expectancy. However, it depends on the severity of different symptoms in an individual. The lifestyle of a patient varies largely according to the level of mental and physical development.

Coffin Siris Syndrome is an incurable disease; however, proper treatment helps a patient to live a reasonably long life. Early medical attention is important for treating this disorder.

References:

http://www.healthline.com/galecontent/coffin-siris-syndrome#treatmentandmanagement

http://www.cafamily.org.uk/medicalinformation/conditions/azlistings/c46_6.html

http://www.rightdiagnosis.com/c/coffin_siris_syndrome/symptoms.htm

http://children.webmd.com/coffin-siris-syndrome