Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

3p deletion syndrome


Other Names for this Disease

  • 3p- syndrome
  • Chromosome 3, monosomy 3p25
  • Del(3p) syndrome
  • Deletion 3p25
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

What are the signs and symptoms of 3p deletion syndrome?

3p deletion syndrome may cause a wide variety of abnormalities, with the extent sometimes depending on the overall size of the deleted part. Some people with 3p deletion syndrome are described as "normal," while others are severely affected. Characteristic features of the syndrome include low birth weight, small head size (microcephaly), trigonocephaly, poor muscle tone (hypotonia), intellectual disability, growth problems, drooping of the eyelid (ptosis), and small jaw (micrognathia). Other features that may be seen include extra fingers or toes (polydactyly), kidney (renal) anomalies, congenital heart defects, ear anomalies, and gastrointestinal tract anomalies.[1]

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.
Last updated: 7/8/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for 3p deletion 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.

Signs and Symptoms Approximate number of patients (when available)
Abnormal renal morphology 5%
Atrioventricular canal defect 5%
Cryptorchidism 5%
Hearing impairment 5%
Macular hypoplasia 5%
Prominent nasal bridge 5%
Seizures 5%
Anteverted nares -
Autosomal dominant inheritance -
Blepharophimosis -
Brachycephaly -
Depressed nasal bridge -
Downturned corners of mouth -
Epicanthus -
Feeding difficulties -
Flat occiput -
High palate -
Hypertelorism -
Long philtrum -
Low-set ears -
Micrognathia -
Muscular hypotonia -
Periorbital fullness -
Postaxial polydactyly -
Postnatal growth retardation -
Preauricular pit -
Prominent metopic ridge -
Ptosis -
Retrognathia -
Sacral dimple -
Short stature -
Spasticity -
Synophrys -
Thin vermilion border -
Triangular face -
Trigonocephaly -
Upslanted palpebral fissure -

Last updated: 11/3/2014

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.


References
  1. Kaur A, Khetarpal S. 3p deletion syndrome. Indian Pediatr. August, 2013; 50(8):795-796. Accessed 7/8/2014.


Other Names for this Disease
  • 3p- syndrome
  • Chromosome 3, monosomy 3p25
  • Del(3p) syndrome
  • Deletion 3p25
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.