Hypertension and brachydactyly syndrome. Medical search. Frequent questions

The disorder is characterized by: severe salt-independent but age-dependent hypertension brachydactyly malformations of the hands and fingers increased fibroblast growth rate neurovascular contact at the rostral-ventrolateral medulla altered baroreflex blood pressure regulation death from stroke before age 50 years when untreated The disorder is thought to be related to mutations in the PDE3A gene. (wikipedia.org)
Grange syndrome results from mutations in the YY1AP1 gene. (medlineplus.gov)
It is also unknown how YY1AP1 gene mutations are related to other features of Grange syndrome, such as bone abnormalities and learning disabilities. (medlineplus.gov)
Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
Figure 4: Pathways affected in single gene, Mendelian hypertension and hypotension syndromes. (nature.com)
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. (mpg.de)
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). (beds.ac.uk)
In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
It's thought that two different mutations in a certain gene contribute to brachydactyly. (healthline.com)
Abstract The 657del5 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS). (the-medical-dictionary.com)

Arterial hypertension is the condition of persistent elevation of systemic blood pressure (BP). (medscape.com)
Systemic arterial hypertension is the most important modifiable risk factor for all-cause morbidity and mortality worldwide and is associated with an increased risk of cardiovascular disease (CVD). (nature.com)

Associated hands and feet malformations consist of bilateral single transverse palmar creases , syndactyly , broad thumbs , brachydactyly , hallux valgus , triphalangeal thumb , partial duplication of the distal phalanx of the second or third fingers, clinodactyly of the fifth finger, absent first metatarsal bone, proximal radio-ulnar synostosis or duplicated first toe. (symptoma.com)
Among the 15 cases of Poland′s syndrome, 11 cases had brachydactyly or syndactyly. (bvsalud.org)

Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). (nih.gov)
Dysfunctional vascular traits represent key pathophysiological processes in the development of hypertension and cardiovascular disease, with both inherited and reversible elements. (biomedcentral.com)
Additional multisystem involvement is reported, including in the cardiovascular (congenital heart defects, pericardial effusion, constrictive pericarditis, restrictive cardiomyopathy, and hypertension), respiratory (choanal stenosis, laryngotracheal stenosis, and restrictive pulmonary disorder), and gastrointestinal (pyloric stenosis and duodenal stricture) systems [ 3 ]. (e-apem.org)

It is organized into sections by subtype of condition (e.g., infections, genetic syndromes, medication-caused) and includes a section of variants of acne that may be misdiagnosed. (nshealth.ca)
Genetic Syndromes Mimicking Acne Vulgaris -- 25. (nshealth.ca)
With the arrival and widespread adoption of high-throughput DNA sequencing, genetic discoveries in neurodevelopmental disorders (NDDs) and genetic syndromes are advancing very quickly. (mdpi.com)
The study of the genotype-phenotype correlation is not simple in recently-described genetic syndromes, with limited numbers of clinical cases, but it is very important for the clinician, who has to interpret the genetic results and organize the follow-up for children with genetic syndromes. (mdpi.com)

PDE3A mutations cause autosomal dominant hypertension with brachydactyly" (PDF). (wikipedia.org)
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. (medlineplus.gov)
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. (mpg.de)
In nearly all patients with Apert syndrome, the cause is 1 of 2 FGFR2 mutations involving amino acids (Ser252Trp, Pro253Arg). (medscape.com)
X-linked Alport syndrome is largely caused by mutations in COL4A5 which codes for a component of type IV collagen. (rbht.nhs.uk)
Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. (rbht.nhs.uk)
Other, less well-characterised forms of Ehlers-Danlos syndrome result from mutations in additional genes [10] . (rbht.nhs.uk)

Hypertension 69 , e10-e13 (2017). (nature.com)

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. (e-apem.org)
The skeletal anomalies include thickened calvarium, brachydactyly with cone-shaped epiphyses, shortened tubular bones, hypoplastic iliac wings, and large pedicles of the vertebrae [ 2 ]. (e-apem.org)
To determine if brachydactyly is part of a syndrome, a full skeletal X-ray may be done. (healthline.com)
Loeys-Dietz syndrome (LDS) is an aortic aneurysm syndrome characterised by vascular, skeletal, cutaneous, and craniofacial findings. (rbht.nhs.uk)

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. (mendelian.co)

A study by Forte et al found that in both Crouzon and Apert syndrome, the bony orbit is shortened, orbital and orbital soft-tissue volumes are reduced, and the globe's volume is increased. (medscape.com)

These traits include stiffness of the large arteries, microvascular abnormalities, endothelial dysfunction, and atherosclerosis, phenotypes often apparent prior to established hypertension or organ damage. (biomedcentral.com)
Saethre-Chotzen syndrome belongs to the " acrocephalosyndactyly " disorders group and is a rare genetic disease characterized by craniosynostosis , leading to neurocranium, viscerocranium and limb abnormalities . (symptoma.com)

There are often, but not in all cases, malformations of the toes and fingers that are smaller than normal (brachydactyly). (bbs-foundation.org)
Brachydactyly is a shortening of the fingers and toes due to unusually short bones. (healthline.com)
The main symptom of brachydactyly is fingers, toes, or both that are shorter than normal. (healthline.com)
The shortened fingers and toes of brachydactyly may cause you to have difficulty with grip. (healthline.com)
Type B brachydactyly affects the ends of the index through little fingers. (healthline.com)

Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)

In consequence, there is an enrichment of 36 specific Mendelian genetic diseases such as congenital nephrotic syndrome, Finnish type (CNF) 8 in certain areas of Finland today that show mostly recessive inheritance. (nature.com)

Conclusions:The ultrasonography is an effective imaging method for diagnosis of Poland′s syndrome. (bvsalud.org)

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies [1] . (rbht.nhs.uk)

BARDET-BIEDL Syndrome International Connecting people affected by the syndrome of Bardet-Biedl worldwide About BBS FOUNDATION BBS International is a federation that will enable us to collaborate together on a global scale, to unite efforts, to collect and publish information on the disease, to increase network cooperation, to improve research by avoiding unnecessary duplication. (bbs-foundation.org)
Bardet-Biedl syndrome is a rare disease, but many of you around the world are affected by it or one or more of your children. (bbs-foundation.org)
Almost all children with Bardet-Biedl Syndrome suffer from decreased vision, most often starting around the age of 5-6 years. (bbs-foundation.org)
The visual disturbances characteristic of Bardet-Biedl syndrome are due to an impairment of the retina, called retinopathy pigmentosa. (bbs-foundation.org)
In people with Bardet-Biedl syndrome, the progressive reduction in kidney function, known as chronic kidney failure, may require the use of an artificial kidney and lead to a kidney transplant. (bbs-foundation.org)

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). (nih.gov)
1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. (beds.ac.uk)

Crouzon syndrome was first described in 1912. (medscape.com)
Typical appearance of a patient with Crouzon syndrome, with maxillary retrusion, exorbitism, and pseudoprognathism. (medscape.com)
The upper dental arch in Crouzon syndrome is narrowed and retruded, which results in a class III malocclusion. (medscape.com)

A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome . (mdwiki.org)

Weymann S, Yonekawa Y, Khan N, Martin E, Heppner FL, Schinzel A, Kotzot D. Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? (medlineplus.gov)
If the brachydactyly is severe in the feet, you may have trouble walking. (healthline.com)
In rare cases, brachydactyly may be severe enough to present problems with functionality. (healthline.com)
Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)

Hypertension and brachydactyly syndrome (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder. (wikipedia.org)
Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). (medscape.com)
Child with Hurler syndrome (mucopolysaccharidosis type IH). (medscape.com)
Type A brachydactyly is the shortening of the middle phalanges. (healthline.com)
Type D brachydactyly is considered to be common and affects only the thumbs. (healthline.com)
Type E brachydactyly is a rare form if it is not accompanied by another disorder. (healthline.com)
X-rays can also be used to see which bones are shortened and to diagnose the type of brachydactyly. (healthline.com)

Factors that play an important role in the pathogenesis of hypertension include genetics, activation of neurohormonal systems such as the sympathetic nervous system and renin-angiotensin-aldosterone system, obesity, and increased dietary salt intake. (medscape.com)
Brachydactyly is an inherited condition, which makes genetics the main cause. (healthline.com)

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterised by joint hypermobility, skin hyperextensibility, and tissue fragility [9] . (rbht.nhs.uk)

The role of renal nerves in BP control and in the pathogenesis of hypertension has been made evident by the effect of renal denervation (RDN) in animal model experiments. (medscape.com)
Stenosis or occlusion of the arteries that supply blood to the kidneys (renal arteries) can result in chronic high blood pressure ( hypertension ). (medlineplus.gov)
Circulating blood volume is regulated by renal salt and water handling, a phenomenon that plays a particularly important role in salt-sensitive hypertension and in the setting of chronic kidney disease. (medscape.com)

The evaluation of patients with hypertension includes accurate standardized blood pressure (BP) measurement, assessment of the patients' predicted risk of atherosclerotic CVD and evidence of target-organ damage, and detection of secondary causes of hypertension and presence of comorbidities (such as CVD and kidney disease). (nature.com)

Hypertension 37 , 350-356 (2001). (nature.com)

While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. (nih.gov)

This can help determine if other bones in the body are abnormal, which suggests a syndrome. (healthline.com)

Unless there is an accompanying disorder that produces symptoms, or the shortened digits impair the use of hands and feet, there is no treatment needed for brachydactyly. (healthline.com)

Central Pain Syndrome, also known as dejerine-roussy syndrome, is related to paine syndrome and spinal cord injury, and has symptoms including chronic pain, acute onset pain and pain, not elsewhere classified. (silexon.tech)
Unless you have another condition associated with brachydactyly, you should not feel any pain or have any other symptoms. (healthline.com)

The aetiology of hypertension involves the complex interplay of environmental and pathophysiological factors that affect multiple systems, as well as genetic predisposition. (nature.com)

Grange syndrome is a rare condition that primarily affects the blood vessels. (medlineplus.gov)
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. (nature.com)
Genetic screening for rare syndromes is indicated only in the presence of specific historical or physical features. (medscape.com)
In extreme and very rare cases, surgery may be used to treat brachydactyly. (healthline.com)

In addition to fused sutures, children with Saethre Chotzen syndrome also have a characteristic low-set hairline, a "beaked" nose and short stature . (symptoma.com)

One of the consequences of this kidney damage is an increase in blood pressure (hypertension), which occurs in more than half of adults. (bbs-foundation.org)

Fewer than half of those with hypertension are aware of their condition, and many others are aware but not treated or inadequately treated, although successful treatment of hypertension reduces the global burden of disease and mortality. (nature.com)
This condition should be differentiated from Gorlin-Chaudhry-Moss syndrome [3] and Muenke syndrome [4], that may have similar clinical traits. (symptoma.com)
If your condition is not a part of another syndrome, you should be healthy and will have no medical concerns related to your hands and feet. (healthline.com)
Sometimes referred to as "Poland syndrome," it is an uncommon condition present at birth (congenital). (the-medical-dictionary.com)

Anatomy5

Diseases13

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes2

Information Science1

Gene11

Arterial hypertension2

Syndactyly2

Cardiovascular3

Genetic syndromes4

Mutations7

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Skeletal4

Autosomal Recessive1

Apert Syndrome1

Abnormalities2

Fingers5

Dysplasia1

Mendelian1

Diagnosis1

Anomalies1

Bardet-Biedl Sy5

Hereditary2

CROUZON SYNDROME3

Malformation Syndrome1

Severe4

Type7

Genetics2

Comprise1

Renal3

Target organ damage1

20011

Hurler1

Abnormal1

Disorder1

Symptoms2

Pathophysiological1

Rare4

Short1

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Condition4