Chromosome 3p- syndrome
- Chromosome 3, monosomy 3p25
- Chromosome 3pter-p25 Deletion Syndrome
- Del(3p) syndrome
- Deletion 3p25
- Distal 3p deletion
Common symptoms shared by many people with this condition include:
- Growth problems both before and after birth
- Feeding difficulties
- Developmental delay
- Poor muscle tone (hypotonia)
- Intellectual disability
- Distinctive facial features
- Microcephaly and/or unusual head shape
- Autism spectrum disorder
Other features that may be seen include cleft palate; extra fingers and/or toes; gastrointestinal abnormalities; seizures; hearing impairment; kidney problems; and/or congenital heart defects.
To read more about some of the signs and symptoms reported in people with 3p deletion syndrome, you can read Unique's disorder guide entitled '3p25 deletions.' The information in this guide is drawn partly from the
published medical literature, and partly from Unique's database of members with a 3p deletion.
The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 3p- 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.
- Kaur A, Khetarpal S. 3p deletion syndrome. Indian Pediatr. August, 2013; 50(8):795-796. Accessed 7/8/2014.
- 3p25 Deletions. Unique. 2014; http://www.rarechromo.org/information/Chromosome%20%203/3p25%20deletions%20FTNW.pdf.