Hypertension, and Neonatal hypotonia

Diseases related with Hypertension and Neonatal hypotonia

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

Top matches:

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Medium match RIGID SPINE SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Other less relevant matches:

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Medium match YUNIS-VARON SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Neonatal hypotonia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Congestive heart failure Growth delay Feeding difficulties Cryptorchidism Cardiomyopathy Hearing impairment Respiratory insufficiency Flexion contracture Scoliosis Short stature Low-set ears Intrauterine growth retardation Abnormality of the skeletal system Abnormal heart morphology Hyporeflexia Arrhythmia Motor delay Anteverted nares Abnormal facial shape Protruding ear Myopathy Ventricular septal defect Hypertrophic cardiomyopathy Encephalopathy Constipation Failure to thrive in infancy Hypoplasia of the corpus callosum Myoclonus Wide nasal bridge Hypospadias Intellectual disability, severe Respiratory failure High palate Acidosis Agenesis of corpus callosum Tetralogy of Fallot Arthrogryposis multiplex congenita Hypertelorism Ataxia Short neck

Rare Symptoms - Less than 30% cases

Areflexia Aplasia/Hypoplasia of the corpus callosum Strabismus Pachygyria Short chin Abnormal aortic valve morphology Premature birth Hypopigmentation of the skin Pulmonary arterial hypertension Cerebral cortical atrophy Peripheral neuropathy Cerebral atrophy Hepatosplenomegaly Increased serum lactate Wide mouth Short philtrum Lactic acidosis Hepatic steatosis Clitoral hypertrophy Long philtrum Oligohydramnios Thin vermilion border Toe syndactyly Microcolon Hip dislocation Polyhydramnios Proptosis Upslanted palpebral fissure Ileus Syndactyly Depressed nasal bridge Micrognathia Congenital diaphragmatic hernia Pulmonic stenosis Splenomegaly Small for gestational age Abnormal cardiac septum morphology Elevated hepatic transaminase Umbilical hernia Diabetes mellitus Inguinal hernia Hypoventilation Patent ductus arteriosus Atrial septal defect Respiratory distress Sensorineural hearing impairment Cataract CNS hypomyelination Cleft palate Distal muscle weakness Epicanthus Apnea Micropenis Muscular dystrophy Abnormality of the nervous system Hyperlordosis Intellectual disability, profound Rigidity Edema Muscle weakness Intellectual disability, moderate Irritability Ventricular hypertrophy Postnatal growth retardation Severe global developmental delay Lethargy Sparse and thin eyebrow Abnormality of the genital system Coma Aciduria Hirsutism Severe hearing impairment Generalized muscle weakness Proximal muscle weakness Posteriorly rotated ears Pectus excavatum Dilatation Abnormality of cardiovascular system morphology Vomiting Increased variability in muscle fiber diameter Pyloric stenosis Intellectual disability, mild Hydrocephalus Delayed skeletal maturation Spinal rigidity Talipes equinovarus Recurrent infections Clinodactyly of the 5th finger Clinodactyly Multicystic kidney dysplasia Tachycardia Cervical spine instability Muscle mounding Short nose Brachydactyly Abnormality of skeletal muscle fiber size Joint stiffness Horseshoe kidney Adipose tissue loss Spastic paraplegia Cleft lip Polydactyly Omphalocele Limb undergrowth Osteopenia Short metacarpal Hypothyroidism Limitation of joint mobility Osteoporosis Postaxial polydactyly Oral cleft Micromelia Bilateral single transverse palmar creases Gingival overgrowth Smooth philtrum Talipes Myalgia Elevated serum creatine phosphokinase Craniosynostosis Low-set, posteriorly rotated ears Postaxial hand polydactyly Generalized muscle hypertrophy Thin skin Prominent umbilicus Protuberant abdomen Pancreatitis Generalized lipodystrophy Ventricular tachycardia Delayed gross motor development Exercise-induced myalgia Reduced bone mineral density Prominent superficial veins Ventricular arrhythmia Supraventricular tachycardia Progressive proximal muscle weakness IgA deficiency Atlantoaxial dislocation Secondary amenorrhea Lipoatrophy Polycystic ovaries Reduced subcutaneous adipose tissue Mildly elevated creatine phosphokinase Cutis marmorata Skeletal muscle hypertrophy Prominent supraorbital ridges Ventricular fibrillation Lipodystrophy Prolonged QTc interval Atherosclerosis Abnormality of upper lip Bradycardia Sudden cardiac death Growth hormone deficiency Epidermal acanthosis Atrial fibrillation Hypertriglyceridemia Palpitations Hyperinsulinemia Congenital generalized lipodystrophy Long eyelashes Insulin resistance Atlantoaxial instability Hyperlipidemia Polymorphic ventricular tachycardia Abnormal levels of creatine kinase in blood Fasting hyperinsulinemia Muscle stiffness Pointed chin Exercise intolerance Recurrent bacterial infections Loss of subcutaneous adipose tissue in limbs Accelerated skeletal maturation Acanthosis nigricans Dysmenorrhea Prolonged QT interval Microphthalmia Joint dislocation Abnormality of finger Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Premature loss of primary teeth Absent nipple Aplasia/Hypoplasia of the nipples Redundant neck skin Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Hypoplastic labia majora Sclerocornea Increased nuchal translucency Severe failure to thrive Glossoptosis Inverted nipples Short clavicles Aplasia/Hypoplasia of the thumb Abnormality of blood and blood-forming tissues Thin ribs Abnormality of digit Absent thumb Short finger Aplasia/Hypoplasia of the eyebrow Anonychia Flared metaphysis Metatarsus adductus Wide cranial sutures Short upper lip Rocker bottom foot Aplasia/Hypoplasia of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Abnormal parietal bone morphology Tapered toe Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Bilateral external ear deformity Generalized neonatal hypotonia Absent sternal ossification Broad secondary alveolar ridge Generalized hypotrichosis Abnormality of the scapula Gingival recession Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Short middle phalanx of finger Absent eyebrow Cutis laxa Aplasia/Hypoplasia of the abdominal wall musculature Fused sternal ossification centers Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Metopic synostosis Abnormality of the anus Accessory oral frenulum Broad alveolar ridges Medulloblastoma Abnormality of the helix Ventriculomegaly Abnormal hair pattern Postaxial foot polydactyly Anal stenosis Ulnar deviation of finger Abnormality of immune system physiology Dislocated radial head Biparietal narrowing Multiple joint contractures Radial deviation of finger Trigonocephaly Hand polydactyly Redundant skin Renal hypoplasia/aplasia Sacral dimple Macrocephaly Aplasia of the ovary Abnormality of dental morphology Cardiomegaly Sparse eyebrow Abnormality of the urinary system Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Sparse eyelashes Short ribs Short toe Short thumb Hydrops fetalis Short phalanx of finger Large fontanelles Sparse scalp hair Small nail Cerebellar vermis hypoplasia Neuronal loss in central nervous system Cerebellar hypoplasia Dandy-Walker malformation Hypodontia Tapered finger Single transverse palmar crease High, narrow palate Hypotrichosis Dolichocephaly Microtia Sparse hair Abnormality of the pinna Thin upper lip vermilion Macrotia High forehead Narrow mouth Dysphagia Abnormal pulmonary valve morphology Coronary artery aneurysm Abnormality of the foot Renal tubular acidosis Hyperkalemia Hyponatremia Chronic kidney disease Severe muscular hypotonia Fasciculations Decreased liver function Renal dysplasia Renal hypoplasia Epileptic encephalopathy Delayed myelination Renal cyst Absent speech Breech presentation Renal insufficiency Anemia Cardiac conduction abnormality Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Limited neck flexion Hamstring contractures Minicore myopathy Crackles Orthopnea Nocturnal hypoventilation Increased CSF lactate Tongue fasciculations Peroneal muscle atrophy Single umbilical artery Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Neonatal insulin-dependent diabetes mellitus Intermittent diarrhea Pancreatic hypoplasia Cervical ribs Biliary atresia Perimembranous ventricular septal defect Interrupted aortic arch Ureteral duplication Prolonged partial thromboplastin time Mild microcephaly Truncus arteriosus Microvesicular hepatic steatosis Pulmonary artery stenosis Exocrine pancreatic insufficiency Congenital hypothyroidism Transposition of the great arteries Glycosuria Hyperglycemia Patent foramen ovale Hyperbilirubinemia Cardiac arrest Hepatitis Intestinal malrotation Gliosis Hernia Muscle fiber necrosis Reduced vital capacity Hypoplasia of right ventricle Choreoathetosis Hyperglycinuria Vertical supranuclear gaze palsy Hyperglycinemia Ketoacidosis Restlessness Weak cry Infantile spasms Spastic diplegia Impulsivity Poor suck Leukopenia Limb ataxia Hypsarrhythmia Delirium Chorea Neutropenia Attention deficit hyperactivity disorder Autistic behavior Aggressive behavior Autism Hyperactivity Visual loss Thrombocytopenia Behavioral abnormality Optic atrophy Hyperreflexia Posterior fossa cyst Nonketotic hyperglycinemia Respiratory arrest Gowers sign Axial muscle weakness Abnormality of the rib cage Restrictive deficit on pulmonary function testing Cor pulmonale Right ventricular hypertrophy Thoracolumbar scoliosis Malignant hyperthermia Neck muscle weakness Hip contracture Generalized amyotrophy High pitched voice Congenital muscular dystrophy Nasal speech Episodic ketoacidosis Poor head control Elbow flexion contracture Progressive muscle weakness Waddling gait Limb muscle weakness Abnormality of the cerebral white matter Cough Facial palsy Pneumonia Skeletal muscle atrophy Fever Pill-rolling tremor Recurrent singultus Anterior pituitary agenesis Pancreatic aplasia Numerous nevi Pain Delayed puberty Pectus carinatum Conductive hearing impairment Kyphoscoliosis Mandibular prognathia Hyperkeratosis Alopecia Depressivity Kyphosis Fatigue Delayed speech and language development Ptosis Neoplasm Chest pain Gastroparesis Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Flat occiput Encephalitis Hyperammonemia Leukoencephalopathy Microretrognathia Intention tremor Interphalangeal joint contracture of finger Flat face Triangular face Syncope Abnormality of the kidney Multiple cafe-au-lait spots Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal mitral valve morphology Hyposmia Angina pectoris Missing ribs Heart block Bundle branch block Webbed neck Bilateral cryptorchidism Unilateral renal agenesis Cubitus valgus Pterygium Mutism Spina bifida occulta Scapular winging Aortic valve stenosis Cafe-au-lait spot Mitral regurgitation Depressed nasal ridge Myocardial infarction Overgrowth Camptodactyly of finger Retrognathia Double outlet left ventricle Distal amyotrophy Hypopigmented skin patches Torticollis Spastic paraparesis Abnormal autonomic nervous system physiology Leukodystrophy Hypohidrosis Aganglionic megacolon Spastic tetraplegia Peripheral demyelination Underdeveloped nasal alae Tetraplegia Distal sensory impairment Prominent nasal bridge Decreased nerve conduction velocity Abnormal pyramidal sign Telecanthus Abdominal pain Hypogonadism Pes cavus Myopia Spasticity Nystagmus Total absence of the pericardium Colon perforation Congenital defect of the pericardium Hypoplastic tricuspid valve Anosmia Portal hypertension Cerebellar atrophy Decreased lacrimation Tremor Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Meconium ileus Peripheral hypomyelination Spotty hyperpigmentation Cerebral dysmyelination Intestinal obstruction White eyebrow White eyelashes Alacrima Intestinal pseudo-obstruction White forelock Demyelinating peripheral neuropathy White hair Heterochromia iridis Blue irides Abnormal eyebrow morphology Hypopigmentation of hair Congenital nystagmus Premature graying of hair Aplasia of the distal phalanx of the hallux


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