Hypertension, and Polydactyly

Diseases related with Hypertension and Polydactyly

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

Top matches:

Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

CONGENITAL DIAPHRAGMATIC HERNIA Is also known as hemidiaphragm, agenesis of|dih|diaphragm, unilateral agenesis of|hernia, congenital diaphragmatic|hcd|cdh|diaphragmatic defect, congenital

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertension
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DIAPHRAGMATIC HERNIA

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Other less relevant matches:

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

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

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. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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

Top 5 symptoms//phenotypes associated to Hypertension and Polydactyly

Symptoms // Phenotype % cases
Renal cyst Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hepatic fibrosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dilatation Stage 5 chronic kidney disease Global developmental delay Hernia Inguinal hernia Respiratory distress Hypertelorism Syndactyly Generalized hypotonia Narrow chest High forehead Short neck Downslanted palpebral fissures Nystagmus Limb undergrowth Rhizomelia Hearing impairment Pulmonary hypoplasia Low-set ears Cleft palate Chronic kidney disease Proteinuria

Rare Symptoms - Less than 30% cases

Sparse eyebrow Prominent nasal bridge High palate Frontal bossing Abnormality of the skeletal system Anteverted nares Abnormal facial shape Upslanted palpebral fissure Pigmentary retinopathy Craniosynostosis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Portal hypertension Joint laxity Hepatic cysts Postaxial hand polydactyly Muscular hypotonia Biliary cirrhosis Epicanthus Hydrocephalus Malar flattening Midface retrusion Talipes equinovarus Bile duct proliferation Occipital encephalocele Multicystic kidney dysplasia Encephalocele Cholestasis Dandy-Walker malformation Metopic synostosis Polyhydramnios Patent ductus arteriosus Hypertonia Renal insufficiency Cryptorchidism Pain Cataract Full cheeks Respiratory tract infection Thin upper lip vermilion Respiratory insufficiency Myopia Brachydactyly Scoliosis Short ribs Atrial septal defect Elevated serum creatinine Preaxial polydactyly Hematuria Abnormality of the kidney Cognitive impairment Renal hypoplasia Broad forehead Micrognathia Cystic hygroma Muscle weakness Gait disturbance Congestive heart failure Kyphosis Cutaneous finger syndactyly Severe short stature Glaucoma Abnormality of the pinna Skeletal dysplasia Arthritis Apnea Hyperlordosis Autoimmunity Partial absence of the septum pellucidum Nephronophthisis Mesomelia Acidosis Pectus carinatum Patent foramen ovale Hip dislocation Rod-cone dystrophy Platyspondyly Widely spaced teeth Genu valgum Micromelia Paresthesia Sensorineural hearing impairment Craniofacial asymmetry Flat face Cloverleaf skull Vesicoureteral reflux Urinary incontinence Telecanthus Hip dysplasia Overgrowth Short chin Aplasia/Hypoplasia of the corpus callosum Horizontal ribs Abnormality of the urinary system Portal fibrosis Overfolded helix Obsessive-compulsive behavior Cutis marmorata Intraventricular hemorrhage Elevated hepatic transaminase Broad philtrum Absent septum pellucidum Syringomyelia High anterior hairline Retrognathia Arnold-Chiari type I malformation Narrow nose Arachnoid cyst Broad face Polysplenia Ureterocele Retinal degeneration Retinal detachment Delayed calcaneal ossification Myelopathy Progressive sensorineural hearing impairment Disproportionate short stature Microdontia Hypoplasia of the odontoid process Vitreoretinopathy Barrel-shaped chest Wide nasal bridge Ectodermal dysplasia Ovoid vertebral bodies Polymicrogyria Everted lower lip vermilion Hepatomegaly Limited elbow movement Abnormality of the dentition Flattened epiphysis Cervical myelopathy Limited hip movement Depressed nasal bridge Blepharophimosis Smooth philtrum Dolichocephaly Retinoschisis Delayed pubic bone ossification Sciatica Neonatal short-trunk short stature Limitation of knee mobility Sparse hair Restrictive ventilatory defect Limitation of joint mobility Narrow palpebral fissure Waddling gait High myopia Cutis laxa Plagiocephaly Lumbar hyperlordosis Osteoarthritis Abnormal lung morphology Abnormal heart morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Coxa vara Hyperbilirubinemia Short thorax Sleep apnea Hydrops fetalis Growth abnormality Genu varum Left ventricular hypertrophy Narrow forehead Clinodactyly Pectus excavatum Back pain Spondyloepiphyseal dysplasia Bowing of the legs Splenomegaly Vestibular dysfunction Sparse eyelashes Deeply set eye Thin vermilion border Disproportionate tall stature Arachnodactyly High, narrow palate Mitral valve prolapse Mitral regurgitation Recurrent urinary tract infections Nephrolithiasis Aortic regurgitation Polycystic kidney dysplasia Cholelithiasis Aortic aneurysm Tricuspid regurgitation Cerebral hemorrhage Dilatation of the cerebral artery Pes planus Subarachnoid hemorrhage Enlarged kidney Chronic pain Tricuspid valve prolapse Colonic diverticula Abdominal aortic aneurysm Cerebral berry aneurysm Skeletal muscle atrophy Obesity Hypogonadism Low-set, posteriorly rotated ears Neurological speech impairment Finger syndactyly Stroke Headache Nephrotic syndrome Spontaneous abortion Anemia Intrauterine growth retardation Recurrent infections Postnatal growth retardation Nephropathy Neutropenia Bifid uvula Focal segmental glomerulosclerosis Hyperuricemia Gout Velopharyngeal insufficiency Gastroesophageal reflux Congenital diaphragmatic hernia Pterygium Chronic tubulointerstitial nephritis Abnormality of digit Developmental stagnation Abnormality of the diaphragm Agenesis of the diaphragm Posterolateral diaphragmatic hernia Cleft lip Oral cleft Short foot Metaphyseal widening Glomerulonephritis Thoracic dysplasia Pes valgus Short iliac bones Hypoplasia of penis Generalized hirsutism Facial asymmetry Seizures Short philtrum Abnormality of eye movement Postaxial polydactyly Highly arched eyebrow Cerebellar vermis hypoplasia Open mouth Tented upper lip vermilion Molar tooth sign on MRI Meningocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Failure to thrive Irritability Motor delay Macrocephaly Ventriculomegaly Hypoplasia of the corpus callosum Short nose Agenesis of corpus callosum Prominent forehead Hyperactivity Narrow mouth Jaundice Hydronephrosis Retinopathy Attention deficit hyperactivity disorder Coloboma Abnormality of the eye Abnormal electroretinogram Cystic renal dysplasia Hypoplasia of the ovary Medial flaring of the eyebrow Hepatosplenomegaly Intestinal malrotation Oligohydramnios Renal dysplasia Large fontanelles Aortic valve stenosis Situs inversus totalis Postaxial foot polydactyly Right ventricular hypertrophy Abnormality of the pancreas Tapetoretinal degeneration Meningoencephalocele Posteriorly rotated ears Potter facies Multiple glomerular cysts Choroid plexus cyst Abnormal biliary tract morphology Pancreatic dysplasia Abnormal liver parenchyma morphology Ataxia Strabismus Ptosis Intellectual disability, severe Microphthalmia Absent speech Pneumonia Fused teeth


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