This fact sheet provides information about Cornelia de Lange Syndrome, its frequency, signs and symptoms and treatment.

 

Cornelia de lange syndrome

 

Cornelia de Lange syndrome is a genetic developmental disorder that can affect many different parts of the body, and the features vary among affected individuals from mild to severe.

 It is characterised by slowed growth leading to short stature, intellectual disability, and bone abnormalities in the arms, hands, and fingers. Many individuals with Cornelia de Lange syndrome have distinctive facial features including arched eyebrows that may meet in the middle, long eyelashes, low-set ears, upturned nose, and widely spaced teeth.

 Cornelia de Lange syndrome results from problems in the following genes, which play a role in directing development before birth: NIPBL, SMC1A, HDAC8, RAD21, and SMC3

Frequency

The exact incidence is unknown, however Cornelia de Lange syndrome is estimated to affect approximately 1 in 10, 000 to 30, 000 newborns.

 Signs and Symptoms

 Physical characteristics

  • Arched eyebrows that meet in the middle
  • Low set ears
  • Widely spaced teeth
  • Small head (microcephaly)
  • Excessive body hair
  • Short stature due to slowed growth before and after birth
  • Bone abnormalities of the bones in the arms, hands, and fingers

Cognitive signs

  • Intellectual disability
  • Delay in speech and communication
  • Characteristics similar to autism spectrum disorder, including behavioural problems

Other medical concerns

  • Hearing loss
  • Problems with the digestive tract
  • Heart problems
  • Seizures

 Treatment

 As Cornelia de Lange syndrome affects many different parts of the body it is managed by a team of doctors and allied health professionals. Some areas of management include:

  • Supplemental milk formulas for nutrition needs
  • Ongoing and regular occupational, physical, and speech therapy
  • Surgical advice for treatment of skeletal abnormalities
  • Medications to prevent seizures

 Included in List A – Conditions which are likely to meet the disability requirements in section 24 of the NDIS Act 

https://www.ndis.gov.au/about-us/operational-guidelines/access-ndis-table-contents/list-conditions-which-are-likely-meet

 References

Cornelia De Lange Syndrome. (2019). Retrieved from

https://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome#inheritance

Cornelia De Lange Syndrome. (2019). Retrieved from

https://rarediseases.info.nih.gov/diseases/10109/cornelia-de-lange-syndrome

Cornelia De Lange Syndrome. (2019). Retrieved from

https://rarediseases.org/rare-diseases/cornelia-de-lange-syndrome/

Groups:

http://www.cdls.org.au/