It is important to note that exceptions may also occur, where individuals with small amount of chromosomal loss, may have disproportionately severe presentations. [dovemed.com]

The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta. [pubmed.ncbi.nlm.nih.gov]

At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow [jmg.bmj.com]

At present he has a weight of 11 kg (<P5), height 84 cm (<P5) and head circumference of 48 cm (P25). [bmcmedgenomics.biomedcentral.com]

• Weakness

  Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects. 2. [encyclopedia.pub]

  [ more ] 0001511 Low-set, posteriorly rotated ears 0000368 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak [rarediseases.info.nih.gov]

  Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects. [medlineplus.gov]

  Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects. 3p deletion syndrome is likely a rare disorder; at least 30 cases have been described in the scientific [ghr.nlm.nih.gov]

  […] complications of Chromosome 3p Deletion Syndrome may include: Severe emotional stress for parents and caregivers Pregnancy complications; some babies are underweight at birth Intrauterine growth retardation (IUGR) Poor growth due to malnutrition caused by weak [dovemed.com]

• Asymptomatic

  Individuals with 1q21.1 microdeletion present with development delays, limitations in brain functioning, physical anomalies, and psychiatric problems; however, in some cases the patients are asymptomatic. 1q21.1 duplication syndrome 1q21.1 duplication [news-medical.net]

• Developmental Disorder

  Autistic behavior Autistic behaviour, Pervasive developmental disorder, Autism spectrum disorder, Autism spectrum disorders [more] A disorder beginning in childhood. [rarediseases.oscar.ncsu.edu]

• Nausea

  Intestinal pseudo-obstruction leads to accumulation of incompletely digested food in the intestines, which causes abdominal distention, pain, nausea, vomiting, and constipation or diarrhea. [news-medical.net]

• Vomiting

  Intestinal pseudo-obstruction leads to accumulation of incompletely digested food in the intestines, which causes abdominal distention, pain, nausea, vomiting, and constipation or diarrhea. [news-medical.net]

• Hirsutism

  Skin examination revealed one melanocytic nevus measuring 3 × 1 cm in size on the right side of the chest in addition to generalized hirsutism, more severe on the patient's back and sides of the face. [pediatr-neonatol.com]

  All these patients show a triangular face and temporal indentation, but they do not show hirsutism, while some other characteristics are not constant among the three cases (Table 1) [5]. [cyberleninka.org]

• Blepharoptosis

  The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long [pubcasefinder.dbcls.jp]

  Ptosis Drooping upper eyelid, Eye drop, Blepharoptosis, Eyelid ptosis [more] The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of [rarediseases.oscar.ncsu.edu]

• Prolapse

  She was diagnosed with a mildly dilated aortic root and ascending aorta, dilated pulmonary artery, atrial and ventricular septal defects, mitral valve prolapse with mitral regurgitation, reducible umbilical hernia, and an urachal remnant. [hindawi.com]

• Muscle Weakness

  Muscle weakness and muscle atrophy are two characteristic features of this disorder. The condition affects muscles of the face, arms, and shoulders. In some cases, the muscles around the eyes may also be affected. [news-medical.net]

• Hypertelorism

  At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow [jmg.bmj.com]

  Medical Term Other Names Description Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism [rarediseases.oscar.ncsu.edu]

  Tapered finger Abnormality of the cardiovascular system Abnormality of cardiovascular system morphology Atrioventricular septal defect Abnormality of the digestive system Feeding difficulties Gastroesophageal reflux Imperforate anus Abnormality of the eye Hypertelorism [ncbi.nlm.nih.gov]

  The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long [pubcasefinder.dbcls.jp]

  […] delay, clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped eyes, a down-turned mouth, a widened nasal bridge, hypertelorism [pubmed.ncbi.nlm.nih.gov]

• Thin Lips

  Additional craniofacial abnormalities may include a triangular face; arched eyebrows that grow together (synophrys); a broad, flat nose; an unusually long vertical groove in the middle of the upper lip (philtrum); thin lips; and/or an abnormally small [rarediseases.org]

  […] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Umbilical hernia 0001537 Ventriculomegaly 0002119 Percent of people who have these symptoms [rarediseases.info.nih.gov]

• Broad and Flat Nose

  The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long [pubcasefinder.dbcls.jp]

• Narrow Forehead

  With additional reports, a syndromic constellation of features emerged, which included growth restriction, microcephaly with trigonocephaly, narrow forehead with prominent metopic suture, ptosis, inner epicanthic folds, upslanting palpebral fissures, [hindawi.com]

• Compulsive Disorder

  Some individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD) or features of autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. [encyclopedia.pub]

  Obsessive-compulsive behavior Obsessive-compulsive disorder, OCD Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). [rarediseases.oscar.ncsu.edu]

• Compulsive Behavior

  Obsessive-compulsive behavior Obsessive-compulsive disorder, OCD Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). [rarediseases.oscar.ncsu.edu]

• Seizure

  It can result in development delays, low muscle tone, congenital heart defects, seizures, and hearing impairment. [dovemed.com]

  Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness [rarediseases.oscar.ncsu.edu]

  […] system Brachycephaly Dolichocephaly Flat occiput Hypotonia Microcephaly Micrognathia Prominent metopic ridge Retrognathia Trigonocephaly Abnormality of the nervous system Absent speech EEG abnormality Global developmental delay Intellectual disability Seizure [ncbi.nlm.nih.gov]

  Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. [rareguru.com]

  Some common signs of this syndrome include distinctive facial features, delay in development, intellectual disability, seizures, vision and hearing problems, congenital heart defects, and renal abnormalities. [news-medical.net]

• Profound Intellectual Disability

  This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features. 1. Introduction Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. [encyclopedia.pub]

  This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features. Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. [medlineplus.gov]

• Convulsions

  […] intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive [rarediseases.oscar.ncsu.edu]

and in some cases, due to treatment also. [dovemed.com]

< Previous section Next section > < Previous section Next section > Standard Therapies Treatment The treatment of Chromosome 3, Monosomy 3p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Treatment Treatment Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. [rarediseases.info.nih.gov]

Last updated: 5/10/2015 Prognosis Prognosis The long-term outlook (prognosis ) for people with chromosome 3p- syndrome varies from person to person. [rarediseases.info.nih.gov]

The long-term outlook (prognosis) for people with chromosome 3p- syndrome varies from person to person. [rareguru.com]

(Etiology) Individuals with Chromosome 3p Deletion Syndrome are missing genetic material located on the short arm (p) of chromosome 3 in each cell. [dovemed.com]

However, these malformations may be multifactorial in their etiology. [bmcmedgenomics.biomedcentral.com]

How can Chromosome 3p Deletion Syndrome be Prevented? Chromosome 3p Deletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]