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What is delang?

Published in Genetic Condition 2 mins read

Delang is not a recognized term or condition in medical or scientific contexts. However, it seems to be a misspelling or truncated version of Cornelia de Lange syndrome.

Let's explore Cornelia de Lange syndrome:

Cornelia de Lange Syndrome

Cornelia de Lange syndrome is a rare genetic disorder that affects multiple systems of the body. It is characterized by distinctive facial features, slowed growth, cognitive delays, and a variety of other physical abnormalities.

Key Features of Cornelia de Lange Syndrome

Here’s a breakdown of the common characteristics:

  • Facial Features:
    • Thin eyebrows that often meet in the middle (synophrys)
    • Short upturned nose
    • Small, widely spaced teeth
    • Thin lips and downturned mouth
  • Growth:
    • Slow growth both before and after birth, leading to short stature.
    • Small head size (microcephaly).
  • Cognitive Issues:
    • Intellectual disability, ranging from mild to severe.
    • Developmental delays, including speech delays.
  • Physical Abnormalities:
    • Malformations of the hands and arms: These can vary greatly in severity, from small hands and feet to missing fingers or portions of limbs.

Other Possible Symptoms

  • Gastrointestinal problems such as feeding difficulties and acid reflux.
  • Heart defects
  • Eye problems
  • Hearing loss
  • Seizures
  • Behavioral issues

Diagnosis and Management

  • Diagnosis: Usually based on the presence of characteristic physical features and confirmed through genetic testing.
  • Management: Focuses on treating the specific symptoms and complications that arise for each individual, involving a team of specialists. This may include occupational therapy, speech therapy, and physical therapy, and may require surgical interventions.

Example:

Imagine a child with very thin eyebrows that meet in the middle, small hands and feet, and is considerably smaller than other children their age. They also have intellectual delays. This combination of features might suggest that they be tested for Cornelia de Lange syndrome.

Feature Description
Facial Features Synophrys, small nose, small teeth, thin lips
Growth Short stature, microcephaly
Cognitive Issues Intellectual disability, developmental delays
Hand/Arm Issues Malformations of hands and arms, ranging from mild to severe.

Therefore, if by 'delang' you meant Cornelia de Lange syndrome, the information provided above clarifies its nature.