Hypertension, and Talipes equinovarus

Diseases related with Hypertension and Talipes equinovarus

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

Top matches:

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

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

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Other less relevant matches:

Medium match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.

CAUDAL REGRESSION SEQUENCE Is also known as sacral agenesis syndrome|caudal dysplasia|sacral regression syndrome

Related symptoms:

  • Scoliosis
  • Cryptorchidism
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about CAUDAL REGRESSION SEQUENCE

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

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

Top 5 symptoms//phenotypes associated to Hypertension and Talipes equinovarus

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Microcephaly Failure to thrive Pulmonary hypoplasia Arthrogryposis multiplex congenita Global developmental delay Renal agenesis Retrognathia Low-set ears Flexion contracture

Rare Symptoms - Less than 30% cases

Hypertonia Brisk reflexes Obsessive-compulsive behavior Rheumatoid arthritis Torticollis Horizontal nystagmus Abnormality of extrapyramidal motor function Bradykinesia Parkinsonism Impaired vibration sensation in the lower limbs Sleep disturbance Anxiety Rigidity Hypothyroidism Gait ataxia Pes cavus Babinski sign Depressivity Fatigue Hypoplasia of the corpus callosum Lower limb hyperreflexia Focal dystonia Limb dystonia Posteriorly rotated ears Myopathic facies Reduced tendon reflexes Hyperreflexia Cryptorchidism Hyperlordosis Abnormality of cardiovascular system morphology Difficulty walking Ureteral duplication Long philtrum Generalized dystonia Muscular hypotonia Short stature Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Transient hyperphenylalaninemia Decreased CSF homovanillic acid Progressive flexion contractures Encephalopathy Hearing impairment Postural tremor Joint laxity Micrognathia Hepatic fibrosis Anteverted nares Renal insufficiency Polycystic kidney dysplasia Talipes Portal hypertension Depressed nasal bridge Polyhydramnios Myopathy Respiratory failure Kyphoscoliosis Abnormality of the kidney Decreased fetal movement Thin upper lip vermilion Gaze-evoked nystagmus Hyperactive deep tendon reflexes Spastic diplegia Dysphonia Cerebral palsy Involuntary movements Resting tremor Torsion dystonia Upper motor neuron dysfunction Exaggerated startle response Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Fixed facial expression Joint stiffness Anal atresia Oral cleft Vesicoureteral reflux Ambiguous genitalia Hyperglycinemia Congenital diaphragmatic hernia Abnormal cerebellum morphology Spasticity Bilateral renal agenesis Abnormal sacrum morphology Bilateral renal hypoplasia Nonketotic hypoglycemia Urogenital fistula Potter facies Urethral obstruction Sirenomelia Bilateral renal dysplasia Fetal polyuria Nystagmus Fetal distress Confusion Motor delay Tremor Gait disturbance Behavioral abnormality Dystonia Irritability Abnormal pyramidal sign Abnormality of pelvic girdle bone morphology Spastic paraplegia Abnormality of movement Paraplegia Arnold-Chiari malformation Abnormality of the ureter Impulsivity Pulmonary arterial hypertension Apnea Muscular hypotonia of the trunk Ventriculomegaly Abnormality of the skeletal system Dysphagia Optic atrophy Ptosis Aplasia cutis congenita Erythroderma Sandal gap Short chin Spontaneous abortion Ventricular hypertrophy Broad forehead Atrial septal defect Short nose Microphthalmia Hernia Clinodactyly Upslanted palpebral fissure Hyperactivity High forehead Telecanthus Highly arched eyebrow Delayed myelination Wide intermamillary distance Tetralogy of Fallot Vaginal atresia Hip dislocation Ectopic kidney Visual impairment Decreased muscle mass Bowel incontinence Optic disc pallor Missing ribs Maternal diabetes Arrhinencephaly Hypoplastic vertebral bodies Abnormal vertebral segmentation and fusion Hand clenching Genu recurvatum Aplasia/Hypoplasia of the sacrum Abnormality of the wing of the ilium Myopia Dolichocephaly Hip contracture Weak cry Overlapping toe Oral-pharyngeal dysphagia Sparse eyebrow Trigonocephaly Deep philtrum Elbow flexion contracture Clonus Long eyelashes Hip dysplasia Esotropia Abnormality of the foot Abnormality of female internal genitalia Sudden cardiac death Bicornuate uterus Congenital hepatic fibrosis Nephrolithiasis Aortic regurgitation Chronic kidney disease Cholelithiasis Aortic aneurysm Tricuspid regurgitation Cerebral hemorrhage Disproportionate tall stature Dilatation of the cerebral artery Subarachnoid hemorrhage Enlarged kidney Cholangitis Pancreatic cysts Mitral regurgitation Hepatic cysts Chronic pain Tricuspid valve prolapse Colonic diverticula Abdominal aortic aneurysm Cerebral berry aneurysm Ataxia High palate Wide nasal bridge Downslanted palpebral fissures Short neck Narrow mouth Recurrent urinary tract infections Mitral valve prolapse Intellectual disability, moderate Thoracic kyphoscoliosis Intrauterine growth retardation Camptodactyly Triangular face Joint contracture of the hand Adducted thumb Pterygium Congenital contracture Bilateral talipes equinovarus Ankylosis Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Abnormality of the diaphragm Renal cyst Short umbilical cord Pain Syndactyly Headache Dilatation Polydactyly Pes planus Stroke Arachnodactyly Stage 5 chronic kidney disease Hematuria High, narrow palate Osteopenia Low-set, posteriorly rotated ears Breech presentation Epicanthus Decreased liver function Exercise intolerance Limb-girdle muscular dystrophy Akinesia Difficulty climbing stairs Exertional dyspnea Fetal akinesia sequence Esophageal varix Generalized edema Tubulointerstitial fibrosis Limb joint contracture Cleft palate Proteinuria Waddling gait Falls Oligohydramnios Renal hypoplasia Primary amenorrhea Depressed nasal ridge Renal dysplasia Multicystic kidney dysplasia Abnormal intestine morphology Abnormality of the genitourinary system Unilateral renal agenesis Tracheoesophageal fistula Non-midline cleft lip Hydrops fetalis Ascites Postnatal growth retardation Peripheral neuropathy Microtia Smooth philtrum Rhizomelia Progressive microcephaly Coxa valga Failure to thrive in infancy Vertebral segmentation defect Pierre-Robin sequence Enlarged cisterna magna Butterfly vertebrae Abnormal isoelectric focusing of serum transferrin Muscle weakness Hepatomegaly Hepatic failure Skeletal muscle atrophy Cardiomyopathy Edema Congestive heart failure Hyporeflexia Dyspnea Hepatosplenomegaly Proximal muscle weakness Abnormality of the liver Muscular dystrophy Dilated cardiomyopathy Limb muscle weakness Cirrhosis Nonketotic hyperglycinemia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Narrow forehead, related diseases and genetic alterations Congestive heart failure and Hyperglycemia, related diseases and genetic alterations Macrocephaly and High, narrow palate, related diseases and genetic alterations Edema and Aortic valve stenosis, related diseases and genetic alterations