Hypertension, and Joint laxity

Diseases related with Hypertension and Joint laxity

In the following list you will find some of the most common rare diseases related to Hypertension and Joint laxity that can help you solving undiagnosed cases.

Top matches:

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii|eds2, formerly|eds ii, formerly|ehlers danlos syndrome, mitis type, formerly|ehlers danlos syndrome, mild classic type, formerly|ehlers-danlos syndrome, type ii, formerly

Related symptoms:

  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 2

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Joint laxity

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Recurrent urinary tract infections Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Joint laxity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Aortic aneurysm Generalized hypotonia Joint hyperflexibility Pectus excavatum Pes planus Stage 5 chronic kidney disease Retinal detachment High palate Dilatation Anemia Failure to thrive Chronic kidney disease Hip dislocation Talipes equinovarus Abnormality of the dentition Epicanthus Myopia Intellectual disability Renal insufficiency Umbilical hernia Low-set ears Microcephaly Bladder diverticulum Gastroesophageal reflux Ptosis Hyperextensible skin Soft skin

Rare Symptoms - Less than 30% cases

Frontal bossing Clinodactyly Horseshoe kidney High anterior hairline Vesicoureteral reflux Recurrent infections Bile duct proliferation Sparse eyebrow Cleft palate Micrognathia Glaucoma Microphthalmia Cataract Sensorineural hearing impairment Patent ductus arteriosus Smooth philtrum Subvalvular aortic stenosis Full cheeks Osteopenia Anteverted nares Elevated hepatic transaminase Abnormality of the skeletal system Depressed nasal bridge Oligohydramnios Growth delay Periodontitis Thin upper lip vermilion Retrognathia Broad forehead Aortic valve stenosis Dolichocephaly Abnormality of the foot Everted lower lip vermilion Cholestasis Bruising susceptibility Proteinuria Hearing impairment Cutis laxa Polydactyly Arrhythmia Abnormality of the kidney Bowel diverticulosis Recurrent respiratory infections Cigarette-paper scars Nephrolithiasis Osteoporosis Portal hypertension Congestive heart failure Arachnodactyly Cholangitis Hypospadias Syndactyly Generalized joint laxity Varicose veins Aortic dissection Atrophic scars Pectus carinatum Pulmonic stenosis Renal cyst Congenital diaphragmatic hernia Mitral valve prolapse Hepatic fibrosis Seizures Limb undergrowth Microdontia Shock Rhizomelia Postaxial hand polydactyly Narrow forehead Left ventricular hypertrophy Wormian bones Hydrops fetalis Abnormality of the face Short ribs Hyperbilirubinemia Narrow palpebral fissure Sparse eyelashes Bilateral sensorineural hearing impairment Plagiocephaly Widely spaced teeth Redundant skin Epiphyseal dysplasia Ectodermal dysplasia Ileus Short neck Premature skin wrinkling Atelectasis Wide nasal bridge Brachydactyly Hepatomegaly Cor pulmonale Arterial stenosis Shawl scrotum Ascending tubular aorta aneurysm Dermal translucency Hypertelorism Renal diverticulum Vascular tortuosity Arterial fibromuscular dysplasia Congenital hemolytic anemia Pulmonary artery stenosis Prematurely aged appearance Supravalvular aortic stenosis Telecanthus Emphysema Narrow chest Blepharophimosis Sparse hair Delayed cranial suture closure Craniosynostosis Abnormality of the pinna High forehead Splenomegaly Polyhydramnios Acidosis Upslanted palpebral fissure Rod-cone dystrophy Abnormal heart morphology Progressive sensorineural hearing impairment Midface retrusion Patent foramen ovale Hypoplasia of the maxilla Preaxial polydactyly Hyperactivity Respiratory tract infection Intellectual disability, moderate Cleft lip Aggressive behavior Anxiety Macrotia Autism Gait ataxia Posteriorly rotated ears Short philtrum Clinodactyly of the 5th finger Depressivity Short nose Behavioral abnormality Gait disturbance Downslanted palpebral fissures Macrocephaly Delayed speech and language development Cognitive impairment Attention deficit hyperactivity disorder Prominent nasal bridge Expanded phalanges with widened medullary cavities Stereotypy Broad face Shallow orbits Bipolar affective disorder Nasal speech Sandal gap Narrow face Aspiration Anorexia Dental crowding Small for gestational age Pulmonary arterial hypertension Psychosis Prominent nose Single transverse palmar crease Tapered finger Long face Abnormality of skin pigmentation Oral cleft Facial asymmetry Ataxia Expanded metacarpals with widened medullary cavities Mesomelia Fused teeth Generalized muscle weakness Genu valgum Carious teeth Pes cavus Visual loss Skeletal muscle atrophy Muscular hypotonia Muscle weakness Metopic synostosis Cardiomegaly Horizontal ribs Portal fibrosis Cloverleaf skull Broad philtrum Biliary cirrhosis Polysplenia Cutaneous finger syndactyly Cystic hygroma Nephronophthisis Waddling gait Cutaneous photosensitivity Hypoplastic distal radial epiphyses Aortic valve calcification Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Premature loss of permanent teeth Mitral valve calcification Hip subluxation Shallow acetabular fossae Decreased body weight Muscle fiber atrophy Onycholysis Osteolytic defects of the phalanges of the hand Heart block Epiphora Psoriasiform dermatitis Scaling skin Osteolysis Coxa valga Overgrowth Joint hypermobility Recurrent fractures Severe vision loss Retinal coloboma Optic nerve coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Abnormality of the vasculature Arnold-Chiari type I malformation Chorioretinal atrophy Ureteropelvic junction obstruction Visual field defect Nephritis Abnormality of the genitourinary system Macular degeneration Multicystic kidney dysplasia Renal dysplasia Abnormality of the genital system High-frequency hearing impairment Pyelonephritis Progressive visual loss Recurrent pyelonephritis Hypoglycemia Cerebral atrophy Vomiting Respiratory insufficiency Intrauterine growth retardation Feeding difficulties Ureterovesical junction obstruction Macular hyperpigmentation Platybasia Orbital cyst Morning glory anomaly Renal malrotation Scleral staphyloma Optic nerve dysplasia Mild proteinuria Bilateral renal hypoplasia Lens luxation Renal hypoplasia Gliosis Abnormality of the eye Hematuria Cerebral hemorrhage Tricuspid regurgitation Cholelithiasis Polycystic kidney dysplasia Aortic regurgitation Mitral regurgitation High, narrow palate Stroke Dilatation of the cerebral artery Headache Pain Scoliosis Abnormal oral cavity morphology Femoral hernia Peritonitis Dermal atrophy Thin skin Disproportionate tall stature Subarachnoid hemorrhage Nephropathy Strabismus Confusion Coloboma Hydronephrosis Reduced visual acuity Edema Hydrocephalus Visual impairment Nystagmus Enlarged kidney Cerebral berry aneurysm Abdominal aortic aneurysm Colonic diverticula Tricuspid valve prolapse Chronic pain Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Deeply set eye Abnormality of the liver Hemolytic anemia Inflammatory abnormality of the skin Hiatus hernia Aortic root aneurysm Fragile skin Ectopia lentis Infantile muscular hypotonia Joint dislocation Osteoarthritis Blue sclerae Hyperextensibility of the finger joints Asthma Kyphoscoliosis Motor delay Nonketotic hyperglycinemia Fetal distress Hyperglycinemia Exaggerated startle response Spondylolisthesis Rectal prolapse Genu recurvatum Subcutaneous spheroids Arthralgia Hypothyroidism Respiratory distress Cryptorchidism Membranous ventricular septal aneurysm Premature birth following premature rupture of fetal membranes Hyperextensibility of the knee Hyperextensibility at elbow Poor wound healing Irregularly spaced teeth Arterial rupture Myxomatous mitral valve degeneration Molluscoid pseudotumors Narrow maxilla Premature rupture of membranes Lop ear Eczematoid dermatitis Hand clenching Hip contracture Cough Hypoalbuminemia Flexion contracture Small scrotum Vitamin A deficiency Anasarca Vitamin D deficiency Interstitial pulmonary abnormality Rickets Tachypnea Optic atrophy Hypocalcemia Decreased liver function Abnormal lung morphology Pancytopenia Ascites Hepatic steatosis Cirrhosis Abnormality of eye movement Hyperreflexia Dysphagia Weak cry Long eyelashes Myopathic facies Overlapping toe Oral-pharyngeal dysphagia Trigonocephaly Deep philtrum Elbow flexion contracture Clonus Hip dysplasia Ventriculomegaly Esotropia Arthrogryposis multiplex congenita Apnea Muscular hypotonia of the trunk Respiratory failure Encephalopathy Hypertonia Hypoplasia of the corpus callosum Six lumbar vertebrae


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