Cornelia de Lange syndrome
- Brachmann de Lange syndrome
- De Lange syndrome
- Typus degenerativus amstelodamensis
- Slowed growth before and after birth
- Intellectual disability
- Developmental delay
- Autistic and/or self-destructive behaviors
- Skeletal abnormalities of the arms and hands
- Gastrointestinal problems
- Hirsutism (excess hair growth)
- Hearing loss
- Congenital heart defects
- Genital abnormalities (i.e. cryptorchidism)
Affected people typically have distinctive craniofacial features, as well, which may include microcephaly; arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose.
The Human Phenotype Ontology provides the following list of signs and symptoms for Cornelia de Lange syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Matthew A Deardorff, MD, PhD, Dinah M Clark, MS, and Ian D Krantz, MD. Cornelia de Lange Syndrome. GeneReviews. October 2011; http://www.ncbi.nlm.nih.gov/books/NBK1104/#cdls.Diagnosis.
- Mustafa Tekin, MD. Cornelia De Lange Syndrome. Medscape Reference. April 2015; http://emedicine.medscape.com/article/942792-overview.