Presentation
In addition, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. [rarediseases.org]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Entire Body System
- Poor Growth
However, in other instances, such as those with larger VSDs, associated symptoms and findings may include difficulties feeding, poor growth, difficult or labored breathing (dyspnea), profuse sweating, increased susceptibility to respiratory infections [rarediseases.org]
Respiratoric
- Labored Breathing
However, in other instances, such as those with larger VSDs, associated symptoms and findings may include difficulties feeding, poor growth, difficult or labored breathing (dyspnea), profuse sweating, increased susceptibility to respiratory infections [rarediseases.org]
Cardiovascular
- Heart Failure
[…] to pump blood efficiently to the lungs and the rest of the body (heart failure), enlargement of the heart, and/or other abnormalities. [rarediseases.org]
Musculoskeletal
- Short Hands
Some affected individuals may have abnormal skin ridge patterns of the palms of the hands. [rarediseases.org]
- Acrocephaly
Turricephaly (also known as oxycephaly or acrocephaly) is characterized by premature fusion of the suture (i.e., coronal suture) between bones forming the forehead and the upper sides of the skull (frontal and parietal bones) and possibly other sutures [rarediseases.org]
Psychiatrical
- Suggestibility
During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other abnormalities. [rarediseases.org]
Treatment
Standard Therapies Treatment The treatment of Chromosome 7, Partial Monosomy 7p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
The complications of Chromosome 7p Deletion Syndrome may include: Intellectual impairment Reduced quality of life Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]
Prognosis
Prognosis The prognosis is variable, depending on the malformations associated. The documents contained in this web site are presented for information purposes only. [orpha.net]
Etiology
Etiology The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. [orpha.net]
(Etiology) Chromosome 7p Deletion Syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7 Most cases are not inherited, but people can pass the deletion on to their [dovemed.com]
Epidemiology
Summary Epidemiology Around 50 cases of pure distal monosomy 10p have been reported. [orpha.net]
Prevention
For affected infants with craniosynostosis, depending on the number and type of cranial suture(s) involved and other factors, early surgery may be advised to help prevent abnormal shaping of the head, increase skull capacity, and/or prevent possible neurologic [rarediseases.org]
How can Chromosome 7p Deletion Syndrome be Prevented? Currently, Chromosome 7p Deletion Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]