Hypertension, and Hip dysplasia

Diseases related with Hypertension and Hip dysplasia

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

Top matches:

CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia|cda ia|anemia, congenital dyserythropoietic, type i

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS Is also known as scott-taor syndrome|sps|ischiopatellar dysplasia|patella aplasia, coxa vara, and tarsal synostosis|small patella syndrome|coxopodopatellar syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Other less relevant matches:

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:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

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

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

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

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Medium match CODAS SYNDROME

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Hip dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Ventriculomegaly Abnormal facial shape Intellectual disability Inguinal hernia Short chin Seizures Short nose Brachydactyly Congestive heart failure Macrocephaly Craniosynostosis Thin vermilion border Ptosis Anteverted nares Hypoplasia of the corpus callosum Broad forehead Hip dislocation Failure to thrive Muscular hypotonia Ventricular septal defect

Rare Symptoms - Less than 30% cases

Strabismus Portal hypertension Congenital cataract Hyperglycemia Prominent superficial veins Respiratory failure Cutis marmorata Prematurely aged appearance Narrow mouth Anemia Cryptorchidism Telangiectasia of the skin Attention deficit hyperactivity disorder Rocker bottom foot Growth delay Frontal bossing Renal insufficiency Hyperactivity Pneumonia Hypermetropia Sensorineural hearing impairment Hearing impairment Sparse eyebrow Pes valgus Microcephaly Arthrogryposis multiplex congenita Splenomegaly Flexion contracture Depressed nasal bridge Syndactyly Small nail Jaundice Dilatation Hypertonia High palate Thin skin Pulmonary arterial hypertension Prominent forehead Abnormality of epiphysis morphology Joint hyperflexibility Micrognathia Pes planus Overfolded helix Motor delay Coxa vara Hernia Encephalopathy Abnormality of retinal pigmentation Narrow face Aortic valve stenosis Increased bone mineral density Skin ulcer Abnormality of the hair Pyloric stenosis Decreased body weight Hypertriglyceridemia Type II diabetes mellitus Mitral valve prolapse Convex nasal ridge Dyspnea Limitation of joint mobility Finger clinodactyly Abnormality of the voice Neoplasm of the skin Respiratory distress Myopia Decreased fertility Fatigue Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Premature graying of hair Malar flattening Reduced bone mineral density Calf muscle hypertrophy Clinodactyly of the 5th finger Abnormality of the thorax Premature ovarian insufficiency Gastroesophageal reflux Hyperinsulinemia Laryngomalacia Macrotia Retinal degeneration Hepatic steatosis Cardiorespiratory arrest Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Short palpebral fissure Myocardial infarction Esophagitis Aortic dissection Hiatus hernia Femoral hernia Pulmonary artery stenosis Aortic root aneurysm Cardiac arrest Keratoconus Coxa valga Hyperextensible skin Redundant skin Arterial stenosis Median cleft lip and palate Short palm Diabetes mellitus Hypertrophic cardiomyopathy Aortic aneurysm Blepharophimosis Dilated cardiomyopathy Delayed puberty Hypotrichosis Hyperkeratosis Hypogonadism Specific learning disability Osteoporosis Alopecia Skeletal muscle atrophy Abnormality of the zygomatic bone Arachnodactyly Abnormal carotid artery morphology Long face Keratoglobus Long palm Macrocytic dyserythropoietic anemia Lipoatrophy Short phalanx of finger Proximal placement of thumb Epiphyseal dysplasia Bilateral ptosis Abnormality of pelvic girdle bone morphology CNS hypomyelination Short long bone Drooling Abnormality of dental enamel Congenital hip dislocation Hypoplasia of dental enamel Spondyloepiphyseal dysplasia Omphalocele Abnormal form of the vertebral bodies Microdontia Short metacarpal Generalized muscle weakness Delayed eruption of teeth Flat face Anal atresia Genu valgum Abnormality of dental morphology Hydroureter Abnormality of the pinna Vocal cord paresis Laryngeal obstruction Extrahepatic biliary duct atresia Crumpled ear Broad skull Hypoplastic helices Squared iliac bones Hemiatrophy Lumbar scoliosis Midline defect of the nose Delayed ossification of carpal bones Atrioventricular canal defect Thin eyebrow Coronal cleft vertebrae Complete atrioventricular canal defect Abnormality of the larynx Rectovaginal fistula Delayed epiphyseal ossification Hypoplasia of the odontoid process Prominent metopic ridge Short humerus Metaphyseal dysplasia Short philtrum Intellectual disability, moderate Aplasia/Hypoplasia of the skin Renal neoplasm White forelock Exercise-induced myalgia Chondrocalcinosis Lack of skin elasticity Abnormality of the testis Pili torti Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Osteolytic defects of the phalanges of the hand Abnormal hair quantity Meningioma Progeroid facial appearance Fragile nails Hypertelorism Insulin-resistant diabetes mellitus Secondary amenorrhea Ovarian neoplasm Sparse body hair Glycosuria Abnormality of the pulmonary artery Generalized lipodystrophy Conductive hearing impairment Patchy hypo- and hyperpigmentation Polyhydramnios Delayed skeletal maturation Atrial septal defect Epicanthus Delayed speech and language development Cataract Nystagmus Abnormality of circulating leptin level Sclerosis of hand bone Progressive clavicular acroosteolysis Neoplasm of the breast Neoplasm of the oral cavity Premature arteriosclerosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the lung Polymicrogyria Partial absence of the septum pellucidum Prominent scalp veins Rod-cone dystrophy Pectus excavatum Abnormality of the dentition Reticulocytosis Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Portal vein thrombosis Macrocytic anemia Hypersplenism Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Calcinosis Dystrophic toenail Right ventricular hypertrophy Protruding ear Narrow chest Oligodactyly Bone marrow hypocellularity Sagittal craniosynostosis Elevated serum creatinine Cutaneous finger syndactyly Nephronophthisis Chronic kidney disease Cone/cone-rod dystrophy Cutis laxa Recurrent pneumonia Hepatic fibrosis Smooth philtrum Limb undergrowth Ectodermal dysplasia Asthma Full cheeks Nephropathy Short distal phalanx of finger Prolonged neonatal jaundice Joint hypermobility Stage 5 chronic kidney disease Progressive proximal muscle weakness Aplasia cutis congenita Broad phalanx of the toes Short femur Wide capital femoral epiphyses Hypoplasia of the lesser trochanter Talocalcaneal synostosis Iliac horns Flat capital femoral epiphysis Aplasia/Hypoplasia of the patella Patellar hypoplasia Patellar aplasia Patellar dislocation Poikilocytosis Tarsal synostosis Sandal gap Mild postnatal growth retardation Carious teeth Endopolyploidy on chromosome studies of bone marrow Pain Cleft palate Reduced activity of N-acetylglucosaminyltransferase II Erythroid hyperplasia Muscle weakness Spastic diplegia Pulmonic stenosis Abnormality of the coagulation cascade Patent foramen ovale Ischemic stroke Hyperammonemia Ventricular hypertrophy Coarctation of aorta Ascites Hepatic failure Abnormality of the cerebral white matter Anemia of inadequate production Severe global developmental delay Stroke Abnormal cardiac septum morphology Proximal muscle weakness Umbilical hernia Increased serum ferritin Abnormal heart morphology Anisocytosis Myopathy Broad distal phalanx of finger Cholelithiasis Craniofacial asymmetry Postprandial hyperglycemia Agenesis of corpus callosum Hydrocephalus Downslanted palpebral fissures Cognitive impairment Increased urinary sedoheptulose Abnormality of globe location Neonatal asphyxia Abnormal CNS myelination Hypochromic anemia Polydactyly Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Recurrent hypoglycemia Breech presentation Diastasis recti Severe postnatal growth retardation Upslanted palpebral fissure Thin upper lip vermilion Steatorrhea Absent septum pellucidum Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Obsessive-compulsive behavior Hydronephrosis Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Renal hypoplasia Pigmentary retinopathy Overgrowth Urinary incontinence Vesicoureteral reflux Facial asymmetry Retinopathy Shallow orbits Adducted thumb Abnormal vertebral morphology Dolichocephaly Oral-pharyngeal dysphagia Trigonocephaly Deep philtrum Elbow flexion contracture Clonus Long eyelashes Esotropia Abnormality of the foot Apnea Myopathic facies Muscular hypotonia of the trunk Joint laxity Retrognathia Hepatosplenomegaly Talipes equinovarus Dysphagia Optic atrophy Hyperreflexia Hydrops fetalis Overlapping toe Weak cry Arnold-Chiari malformation Recurrent infections Chronic diarrhea Large fontanelles Cholestasis Hypotelorism Hepatitis Short foot Prominent nasal bridge High forehead Immunodeficiency Hip contracture Diarrhea Feeding difficulties Edema Nonketotic hyperglycinemia Fetal distress Hyperglycinemia Exaggerated startle response Hand clenching Genu recurvatum Absent epiphyses


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