Chromosomes, Human, Pair 5
22q11 Deletion Syndrome
A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. (1/39)Cri du chat syndrome is associated with a deletion on the short arm of chromosome 5. The main diagnostic feature is a high pitched, cat-like cry which has recently been localised to 5p15.3 and is separate from the remaining clinical features of the syndrome, which have been localised to 5p15.2. The present study describes a family of four who have a deletion slightly distal (5p15.3) to the critical region. Detailed neuropsychological evaluations indicated a similar pattern of cognitive performance to that reported for subjects with typical CDCS but with only minimal intellectual impairment. In addition, in this family the 5p deletion is transmitted in an autosomal dominant fashion, contrasting with most cases of CDCS, which are either de novo or occur as an unbalanced product of a balanced translocation in a normal parent. This study confirms the importance of differentiating between 5p deletions that coincide with the typical cri du chat phenotype which includes severe to profound learning disability and deletions that only delete the distal critical region that coincides with a milder degree of cognitive impairment and a much improved prognosis. (+info)
Cri-du-chat syndrome: clinical profile and prenatal diagnosis. (2/39)Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops. (+info)
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. (3/39)The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype correlation, 80 patients from the Italian CdCS Register were analysed. Molecular cytogenetic analysis showed that 62 patients (77.50%) had a 5p terminal deletion characterised by breakpoint intervals ranging from p13 (D5S763) to p15.2 (D5S18). Seven patients (8.75%) had a 5p interstitial deletion, four (5%) a de novo translocation, and three (3.75%) a familial translocation. Of the remaining four patients, three (3.75%) had de novo 5p anomalies involving two rearranged cell lines and one (1.25%) had a 5p deletion originating from a paternal inversion. The origin of the deleted chromosome 5 was paternal in 55 out of 61 patients (90.2%). Genotype-phenotype correlation in 62 patients with terminal deletions highlighted a progressive severity of clinical manifestation and psychomotor retardation related to the size of the deletion. The analysis of seven patients with interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731. Furthermore, this study lends support to the hypothesis of a separate region in p15.3 for the speech delay. (+info)
Growth study of cri du chat syndrome. (4/39)We compared the growth of children with cri du chat (5p-) syndrome with the 1990 UK growth curves. Most subjects had impaired growth, particularly of head circumference. The more emaciated the child the more pronounced the microcephaly, showing the need for growth and nutrition monitoring. (+info)
Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. (5/39)Cri du chat syndrome (CdCS) results from loss of the distal portion of chromosome 5p, where the telomerase reverse transcriptase (hTERT) gene is localized (5p15.33). hTERT is the rate-limiting component for telomerase activity that is essential for telomere-length maintenance and sustained cell proliferation. Here, we show that a concomitant deletion of the hTERT allele occurs in all 10 patients with CdCS whom we examined. Induction of hTERT mRNA in proliferating lymphocytes derived from five of seven patients was lower than that in unaffected control individuals (P<.05). The patient lymphocytes exhibited shorter telomeres than age-matched unaffected individuals (P<.0001). A reduction in replicative life span and a high rate of chromosome fusions were observed in cultured patient fibroblasts. Reconstitution of telomerase activity by ectopic expression of hTERT extended the telomere length, increased the population doublings, and prevented the end-to-end fusion of chromosomes. We conclude that hTERT is limiting and haploinsufficient for telomere maintenance in humans in vivo. Accordingly, the hTERT deletion may be one genetic element contributing to the phenotypic changes in CdCS. (+info)
Heterozygous telomerase deficiency in mouse and man: when less is definitely not more. (6/39)Telomerase, whose core components are a reverse transcriptase (TERT) and an integral RNA (TERC) maintains telomere ends. In somatic cells in the absence of telomerase telomeres get shorter leading to replicative cell senescence. In cancer cells abundant telomerase is present and cells do not senesce. Hence levels of telomerase may be crucial in regulating senescence and the transition to the neoplastic state. Heterozygous TERC mutations in man have been shown to underlie the rare inherited skin and bone marrow failure condition dyskeratosis congenita and a number of patients initially classified as idiopathic aplastic anemia have also been found to be mutated in one allele of the TERC gene. Families in which TERC mutations are segregating show disease anticipation, the severity of the disease increasing in successive generations due to decreasing telomere length. These data, along with biochemical analysis of mutated Terc and studies of Terc deficient mice show that in man and mouse haploinsufficiency for TERC leads to inability to correctly maintain telomeres, and highlights the importance of finely controlled telomerase levels in striking a balance between the processes of aging and cancer. Here we review several scenarios in which telomerase levels are disturbed, in human diseases or following genetic manipulation in mice. (+info)
High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. (7/39)We have used array comparative genomic hybridization to map DNA copy-number changes in 94 patients with cri du chat syndrome who had been carefully evaluated for the presence of the characteristic cry, speech delay, facial dysmorphology, and level of mental retardation (MR). Most subjects had simple deletions involving 5p (67 terminal and 12 interstitial). Genotype-phenotype correlations localized the region associated with the cry to 1.5 Mb in distal 5p15.31, between bacterial artificial chromosomes (BACs) containing markers D5S2054 and D5S676; speech delay to 3.2 Mb in 5p15.32-15.33, between BACs containing D5S417 and D5S635; and the region associated with facial dysmorphology to 2.4 Mb in 5p15.2-15.31, between BACs containing D5S208 and D5S2887. These results overlap and refine those reported in previous publications. MR depended approximately on the 5p deletion size and location, but there were many cases in which the retardation was disproportionately severe, given the 5p deletion. All 15 of these cases, approximately two-thirds of the severely retarded patients, were found to have copy-number aberrations in addition to the 5p deletion. Restriction of consideration to patients with only 5p deletions clarified the effect of such deletions and suggested the presence of three regions, MRI-III, with differing effect on retardation. Deletions including MRI, a 1.2-Mb region overlapping the previously defined cri du chat critical region but not including MRII and MRIII, produced a moderate level of retardation. Deletions restricted to MRII, located just proximal to MRI, produced a milder level of retardation, whereas deletions restricted to the still-more proximal MRIII produced no discernible phenotype. However, MR increased as deletions that included MRI extended progressively into MRII and MRIII, and MR became profound when all three regions were deleted. (+info)
Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. (8/39)Cri-du-chat (CDC, OMIM 123450) is a chromosomal syndrome that results from partial deletions on the short arm of chromosome 5. The clinical features of CDC normally include high-pitched cat-like cry, mental retardation, microcephaly, hypertelorism and epicanthic folds. The cat-like cry is the most prominent clinical characteristic in newborn children and is usually considered as diagnostic for the CDC syndrome. Using a strategy of 'phenotype dissection', the critical region for cat-like cry was mapped to the chromosomal segment 5p15.3-5p15.2 in previous reports. In this study, the distal breakpoints of two interstitial deletions in two clinical distinctive CDC patients are analysed, one with and one without the cat-like cry. Using PCR, the critical region for the cat-like cry is mapped to a short 640 kbp region on chromosome 5p. Genome analysis of this critical region reveals a gene-rich sequence containing five known genes, five putative genes and three spliced EST sequences, altogether 71 predicted exons. Three genes, FLJ25076, a homolog to a ubiquitin-conjugating enzyme UBC-E2, FLJ20303, a nucleolar protein NOP2, which may play a role in the regulation of the cell cycle and MGC5309, a protein with similarity to Nut2, a Drosophila transcriptional coactivator, have been characterized and expression profiles determined by quantitative PCR. These results suggest that one candidate gene, FLJ25076, encodes a ubiquitin-conjugated enzyme E2 type, which is locally expressed in thoracic and scalp tissues. The other two genes are expressed uniformly in all tissues tested, which suggest that they are housekeeping genes. (+info)
The name "Cri-du-Chat" is French for "cat's cry," which refers to the distinctive cry that children with this condition often make. The syndrome was first described in 1973 by French physician Dr. Andre Cormier, who noticed a similarity between the cry of infants with this condition and the mewing of a cat.
Cri-du-Chat Syndrome is caused by a deletion of genetic material on chromosome 5p, which can be inherited from one or both parents or can occur spontaneously due to a mutation during embryonic development. The severity of the condition varies widely depending on the size and location of the deletion, as well as other factors such as the presence of additional genetic mutations.
Characteristic symptoms of Cri-du-Chat Syndrome include:
1. High-pitched crying: Infants with this condition often have a distinctive, high-pitched cry that is louder and more persistent than normal.
2. Developmental delays: Children with Cri-du-Chat Syndrome may experience delays in reaching developmental milestones such as sitting, standing, and walking.
3. Physical abnormalities: The syndrome can cause a variety of physical abnormalities, including microcephaly (a small head), short stature, and abnormalities of the face, ears, and eyes.
4. Intellectual disability: Some individuals with Cri-du-Chat Syndrome may have intellectual disability or learning difficulties.
5. Speech and language problems: Children with this condition may experience difficulty with speech and language development.
6. Sleep disturbances: Infants with Cri-du-Chat Syndrome may experience sleep disturbances, such as difficulty falling asleep or staying asleep.
7. Gastrointestinal problems: Some individuals with the condition may have gastrointestinal problems, such as constipation or diarrhea.
8. Behavioral challenges: Children with Cri-du-Chat Syndrome may exhibit behavioral challenges, such as irritability, anxiety, and hyperactivity.
It is important to note that each individual with Cri-du-Chat Syndrome can experience a different range of symptoms, and the severity of the condition can vary widely. In some cases, individuals may have mild symptoms, while in others, the condition can be more severe and have a significant impact on daily life.
If you suspect that your child may have Cri-du-Chat Syndrome, it is important to consult with a healthcare professional for a proper diagnosis and appropriate management. A diagnosis of Cri-du-Chat Syndrome is typically made through a combination of clinical evaluation, genetic testing, and imaging studies such as ultrasound or MRI. With early diagnosis and appropriate intervention, individuals with Cri-du-Chat Syndrome can lead fulfilling lives and achieve their full potential.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.
Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:
* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking
There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:
* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.
In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.
The symptoms of 22q11 Deletion Syndrome can vary in severity and may include:
* Heart defects, such as Tetralogy of Fallot or Pulmonary atresia
* Craniofacial abnormalities, such as a small head, narrow eyes, and a flat nose bridge
* Developmental delays and learning disabilities
* Speech and language difficulties
* Behavioral and psychiatric issues, such as anxiety and depression
* Other physical anomalies, such as hearing loss or vision problems
22q11 Deletion Syndrome is usually diagnosed through chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH). Treatment for the syndrome typically involves a multidisciplinary approach, including management of heart defects, speech and language therapy, and behavioral interventions. With appropriate support and care, individuals with 22q11 Deletion Syndrome can lead fulfilling lives.
Some of the key features that distinguish 22q11 Deletion Syndrome from other genetic disorders include:
* The specific location of the deletion on chromosome 22q11
* The range of congenital anomalies and developmental delays present in affected individuals
* The potential for complex behavioral and psychiatric issues
Understanding the definition of 22q11 Deletion Syndrome is important for healthcare professionals, as it can help inform diagnosis and treatment decisions for individuals with this condition. Additionally, awareness of this syndrome can help families and caregivers better understand and support affected individuals.
Some examples of multiple abnormalities include:
1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.
The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.
Cri du chat syndrome
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Lesch-Nyhan Syndrome: Symptoms, Causes, Diagnosis, Treatment
- Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. (medlineplus.gov)
- Parents of a child with this syndrome should have genetic counseling and testing to determine if one parent has a change in chromosome 5. (medlineplus.gov)
- Cri-du-chat syndrome is an autosomal deletion syndrome caused by a partial deletion of the p arm of chromosome 5 (5p) and is characterized by a distinctive, high-pitched, catlike cry in infancy with growth failure , microcephaly, facial abnormalities, and mental retardation throughout life. (medscape.com)
- Cri-du-chat syndrome is caused by a partial or total deletion of genetic material on the short arm of chromosome 5. (medscape.com)
- Cri-du-Chat syndrome, also known as Lejeune's Syndrome, is a rare genetic disorder that's the result of a missing piece of Chromosome 5. (thenba.ca)
- Deletion of a region of DNA from the long (q) arm of chromosome 5 is involved in a condition called 5q minus (5q-) syndrome. (nih.gov)
- 5q31.3 microdeletion syndrome is caused by a chromosomal change in which a small piece of chromosome 5 is deleted in each cell. (nih.gov)
- Cri-du-chat (cat's cry) syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. (nih.gov)
- Researchers have also defined regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. (nih.gov)
- One charity they recently raised funds for is the cri-du-chat syndrome, which is a rare chromosome disorder. (wagner.edu)
- Trisomies, Deletion Syndromes and Sex Chromosome Aneuploidies. (ibdnausa.com)
- For example, scientists can determine that the expectant mother is carrying a baby with Down's syndrome since the ratio of genetic material associated with chromosome 21 will be higher due to the extra, third copy of that chromosome. (ibdnausa.com)
- une etude plus precise du chromosome Y et de l'ADN permettrait de verifier ou de rechercher des microdeletions ou des mutations responsables de ces anomalies. (bvsalud.org)
- Genetic counseling and testing is recommended for all people with a family history of this syndrome. (medlineplus.gov)
- Couples with a family history of this syndrome who wish to become pregnant may consider genetic counseling. (medlineplus.gov)
- In recent years, the application of genetic molecular methods introduced advances in the diagnosis and typification of the cri-du-chat syndrome. (medscape.com)
- Protein-energy malnutrition (PEM) is poorly reported in cri du chat syndrome (CDCS) ( OMIM #123450), a genetic disease that causes developmental delay and global growth retardation. (bvsalud.org)
- Luis has a genetic syndrome called cri-du-chat, which causes cognitive and motor delays, among other symptoms. (watsi.org)
- Luis has a genetic syndrome called cri-du-chat, which causes cognitive and motor delays, among other sympt. (watsi.org)
- Caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HGPRT), Lesch-Nyhan syndrome is a rare genetic disorder that occurs most often in males. (verywellhealth.com)
- The aim of this article was to report the case of an 8-year old patient with Cri-du-Chat syndrome (CdCS) referred to the pediatric dental clinic for urgent dental treatment. (bvsalud.org)
- A loss of one copy of the PURA gene is thought to alter normal brain development and impair the function of neurons, leading to developmental delay, hypotonia, seizures, and other neurological problems in people with 5q31.3 microdeletion syndrome. (nih.gov)
- It is unclear how the loss of other genes in the deleted region contributes to the development of 5q31.3 microdeletion syndrome. (nih.gov)
- A child with cri-du-chat syndrome will likely need a combination of medications, and behavioural therapies to manage the condition's various symptoms. (thenba.ca)
- The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region. (nih.gov)
- Morel Stewart Morgagni syndrome or Internal Hyperostosis Frontal (HFI) is a metabolic craniopathy, most often asymptomatic, it can however be associated with a various manifestations including neuropsychiatric symptoms. (lbp.world)
- Signs of Lesch-Nyhan syndrome are usually first seen when a child is as young as six months old, and female carriers tend to not display symptoms. (verywellhealth.com)
- In infants, Lesch-Nyhan syndrome can lead to under-development of certain muscle groups, sometimes leading to an inability to hold the head up. (verywellhealth.com)
- Approximately 85% of those with Lesch-Nyhan syndrome display self-mutilating behaviors, such as compulsive lip, hand, or finger biting as well as head banging. (verywellhealth.com)
- Lesch-Nyhan syndrome is often characterized by strong muscle spasms that lead to severe arching of the back. (verywellhealth.com)
- Lesch-Nyhan syndrome is caused by a mutation of the HPRT1 gene, which hinders the production of the HGPRT enzyme. (verywellhealth.com)
- Since an elevated level of uric acid in the blood is a hallmark of the condition, blood testing can identify Lesch-Nyhan syndrome. (verywellhealth.com)
- Children with cri-du-chat syndrome also have chronic medical problems such as upper respiratory tract infections, otitis media , severe constipation, and hyperactivity. (medscape.com)
- The evening of October 6, 1999, after we received Emily's diagnosis of cri du chat syndrome, I hung up the phone and curled up on my bedroom floor crying. (themighty.com)
- She started blogging in the spring of 2013 when her daughter decided to talk about her diagnosis of Cri du Chat syndrome to her 8th grade classmates. (themighty.com)
- Newborns have a characteristic mewing cry, a high-pitched monochromatic cry that is considered pathognomonic for this syndrome. (medscape.com)
- In particular, loss of the RPS14 gene leads to the problems with red blood cell development characteristic of 5q- syndrome, and loss of MIR145 or MIR146A contributes to the megakaryocyte abnormalities. (nih.gov)
- A case report published by the APA analyzes a Caucasian woman who suffered from Patau syndrome and how it affected her 17 siblings. (cram.com)
- a congenital syndrome caused by excessive consumption of alcohol by the mother during pregnancy, characterized by retardation of mental development and of physical growth, particularly of the skull and face of the infant. (cram.com)
- Epilepsy: syndrome of Landau-Kleffner giving an acquired verbal auditory agnosia. (dd-database.org)
- Affecting approximately 1 in 37,000 to 50,000 live births, Cri-du-Chat syndrome's name derives from a French term that translates to 'cat-cry' or 'call of the cat', as sufferers of the condition tend to exhibit cat-like cries. (thenba.ca)
- They have discovered that in people with cri-du-chat syndrome, larger deletions tend to result in more severe intellectual disability and developmental delays than smaller deletions. (nih.gov)
- Cri-du-Chat syndrome is more prevalent in females than males (4:3 ratio), and commonly affects children. (thenba.ca)
- One half of children with this syndrome learn enough verbal skills to communicate. (medlineplus.gov)
- In the case of cri-du-chat, which predominantly affects children, families can claim the Child Disability Tax Credit. (thenba.ca)
- Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome. (bvsalud.org)
- Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome, also known as Cri du Chat Syndrome. (fivepminus.org)
- AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)
- Hemineglect frequent Syndrome that appears after focal brain injury of the hemisphere parietal, much more frequent, lasting and severe on the right than left. (dd-database.org)
- PMID- 5097502 TI - A pericentric inversion, 5 p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome. (nih.gov)
- Cri du chat syndrome is rare. (medlineplus.gov)
- Alcohol-related birth defects and alcohol-related neurodevelopmental disorders are both factors that contribute to Fetal Alcohol Syndrome. (cram.com)
- Individuals with 5q- syndrome often have a shortage of red blood cells (anemia) and abnormalities in blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. (nih.gov)
- No specific treatment is available for cri-du-chat syndrome. (medscape.com)
- Treatment can eventually take its toll on the person withcri-du-chat syndrome and their family, both financially and emotionally. (thenba.ca)
- 2) And visit this GoFundMe Web page for information on cri-du-chat syndrome to find out how you can help. (wagner.edu)
- These cause conditions such as Down syndrome and Rett syndrome . (nih.gov)
- The journey of my life, my path to redefine myself and a special little girl with Cri du Chat Syndrome and Primary Ciliary Dyskenisia who changed it all. (wordpress.com)
- Or the problem can be both physical and mental, such as Down syndrome . (nih.gov)
- Research suggests that the loss of one copy of multiple genes in this region contribute to the features of 5q- syndrome. (nih.gov)
- Our Society is a support organization that works diligently to spread awareness of the syndrome and provides valuable information, education and support for families, educators, and medical professionals in order to maximize the quality of life for those with 5p- Syndrome. (fivepminus.org)