Cornelia De Lange syndrome

Cornelia De Lange Syndrome OMIM #122470
*This composite image of Cornelia De Lange syndrome was created to help geneticists get a better analysis

What is Cornelia De Lange syndrome?

Cornelia De Lange syndrome is a genetic disorder with a widely varied phenotype. This means symptoms vary significantly between individuals both in terms of their presentation and their severity. Most patients share some facial characteristics as well as short stature and/or growth abnormality.

The syndrome is also often referred to as Brachman De Lange, CDLS, or De Lange syndrome.

Syndrome Synonyms:
BDLS; Brachmann-de Lange syndrome; CDLS; Cornelia de Lange syndrome; Typus degenerativus Amstelodamensis

What gene change causes Cornelia De Lange syndrome?

Cornelia De Lange syndrome occurs in 60% of cases when there is a mutation in the NIPBL gene. In just 10% of cases, the mutation occurs on the SMC1A, SMC3, HDAC8, BRD4, or RAD21 genes. 30% of cases have an unknown cause.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Cornelia De Lange syndrome?

The main symptoms of Cornelia De Lange syndrome may vary between individuals and may also vary in the extent of their severity.

  • Typical facial characteristics of the syndrome include a concave nasal bridge, small nose, thick and long eyebrows, a thin upper lip, and a downward mouth. Short stature is also typical of the syndrome.
  • Other possible symptoms may include growth and developmental delay. Intellectual disability, and disabilities relating especially to behavior and social conditions. Autistic tendencies are common for some individuals.
  • Other health conditions may include skeletal abnormalities, congenital heart defects, gastrointestinal problems, seizures, a cleft palate, and excess hair growth. Genital abnormalities, myopia and hearing loss, and missing digits on the hand and feet may also present as symptoms.

Possible clinical traits/features:
Proximal placement of thumb, Synophrys, Small hand, Short stature, Short foot, Gastroesophageal reflux, High palate, Prominent nasal bridge, Highly arched eyebrow, Hirsutism, Global developmental delay, Clinodactyly of the 5th finger, Feeding difficulties in infancy, Thin vermilion border, Limited elbow movement, Myopia, Intellectual disability, Long eyelashes.

How is Cornelia De Lange syndrome diagnosed?

To find out if someone has a diagnosis of Cornelia de Lange syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

Check your child

Share this syndrome

Cornelia De Lange Syndrome OMIM #122470
*This composite image of Cornelia De Lange syndrome was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more