Symptoma

Partial Monosomy 7p

Partial Deletion of Chromosome 7p

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]

  • Asymptomatic

    For example, in some cases, such as those with small isolated VSDs, no symptoms may be apparent (asymptomatic). [rarediseases.org]

  • Physician

    (cardiologists); physicians who diagnose and treat neurologic disorders (neurologists); and/or other health care professionals. [rarediseases.org]

  • 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]

  • 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]

  • Dyspnea

    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]

  • Vomiting

    Depending on the age at onset and other factors, associated symptoms may include sudden episodes of uncontrolled electrical activity in the brain (seizures), irritability, vomiting, headache, loss of coordination, deteriorating mental functioning, and [rarediseases.org]

  • Sweating

    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]

  • Short Hands

    Reported features have included permanent flexion of one or more fingers (camptodactyly); unusually short hands; abnormalities of the thumbs; a deformity in which the top part of the foot is elevated and the heel turned outward (“clubfoot” [i.e., talipes [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]

  • Small Head

    Such abnormalities may include an unusually small head (microcephaly), closely or widely set eyes (ocular hypotelorism or hypertelorism), downslanting eyelid folds (palpebral fissures), and/or other findings. [rarediseases.org]

  • 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]

  • Irritability

    Depending on the age at onset and other factors, associated symptoms may include sudden episodes of uncontrolled electrical activity in the brain (seizures), irritability, vomiting, headache, loss of coordination, deteriorating mental functioning, and [rarediseases.org]

  • Headache

    Depending on the age at onset and other factors, associated symptoms may include sudden episodes of uncontrolled electrical activity in the brain (seizures), irritability, vomiting, headache, loss of coordination, deteriorating mental functioning, and [rarediseases.org]

  • Meningism

    CSF is the watery protective fluid that circulates through the cavities (ventricles) of the brain, the canal containing the spinal cord (spinal canal), and the space between layers of the protective membranes (meninges) surrounding the brain and spinal [rarediseases.org]

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]

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 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]

Summary Epidemiology Around 50 cases of pure distal monosomy 10p have been reported. [orpha.net]

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]