Hypertension, and Abnormality of the ribs

Diseases related with Hypertension and Abnormality of the ribs

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

Top matches:

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

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.

ENDOSTEAL HYPEROSTOSIS, WORTH TYPE Is also known as ostÉosclÉrose autosomique dominante type worth|osteosclerosis, autosomal dominant|autosomal dominant osteosclerosis, worth type|hyperostosis corticalis generalisata, benign form of worth, with torus palatinus|worth syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL HYPEROSTOSIS, WORTH TYPE

Other less relevant matches:

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

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.

NESTOR-GUILLERMO PROGERIA SYNDROME Is also known as progeria syndrome, childhood-onset, with osteolysis|ngps|pscoo

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NESTOR-GUILLERMO PROGERIA SYNDROME

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

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

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

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 Abnormality of the ribs

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the skeletal system Respiratory distress Abnormality of pelvic girdle bone morphology Micrognathia Respiratory insufficiency Pulmonary arterial hypertension Short ribs Generalized hypotonia Scoliosis Limb undergrowth Narrow chest Hypertelorism Hepatomegaly

Rare Symptoms - Less than 30% cases

Facial palsy Cryptorchidism Renal insufficiency Proptosis Joint stiffness Ureteral duplication Bell-shaped thorax Feeding difficulties Atrial septal defect Neutropenia High palate Hernia Patent foramen ovale Hyperbilirubinemia Elevated hepatic transaminase Neonatal hypotonia Abnormal heart morphology Patent ductus arteriosus Sparse eyelashes Pneumonia Diabetes mellitus Midface retrusion Flexion contracture Horizontal ribs Splenomegaly Cerebral atrophy Tachypnea Hepatitis Proteinuria Small for gestational age Anteverted nares Rhizomelia Short neck Respiratory tract infection Frontal bossing Stage 5 chronic kidney disease Brachydactyly Low-set ears Depressed nasal bridge Oral cleft Congestive heart failure Full cheeks Platyspondyly Polydactyly Anti-thyroid peroxidase antibody positivity Muscular hypotonia Muscle weakness Absent specific antibody response Reduced red cell adenosine deaminase activity Severe B lymphocytopenia Recurrent opportunistic infections Lack of T cell function Abnormality of humoral immunity Immunoglobulin IgG2 deficiency Absence of lymph node germinal center Absent tonsils Wide nose Cardiomyopathy Motor delay Hyperlordosis Waddling gait Generalized muscle weakness Limb muscle weakness Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Muscular dystrophy Cough Apnea Fever Proximal muscle weakness Rigidity Respiratory failure Hyporeflexia Myopathy Edema Aplasia of the thymus Skeletal muscle atrophy Cortical sclerosis Decrease in T cell count Anterior rib cupping Asthma Recurrent bacterial infections Recurrent pneumonia Lymphopenia Sinusitis Chronic diarrhea Recurrent otitis media Inflammatory abnormality of the skin Sepsis Leukoencephalopathy Autoimmunity Hepatosplenomegaly Recurrent respiratory infections Myopia Recurrent infections Immunodeficiency Diarrhea Thin upper lip vermilion Purpura Eosinophilia Recurrent fungal infections Verrucae Diffuse mesangial sclerosis B lymphocytopenia Progressive muscle weakness Pulmonary insufficiency Increased IgE level Cellular immunodeficiency IgM deficiency Allergy Recurrent viral infections Recurrent upper respiratory tract infections B-cell lymphoma Recurrent lower respiratory tract infections Severe combined immunodeficiency Autoimmune thrombocytopenia IgA deficiency Autoimmune hemolytic anemia Malnutrition Combined immunodeficiency Ventricular hypertrophy Congenital muscular dystrophy Elbow flexion contracture Everted lower lip vermilion Left ventricular hypertrophy Cholestasis Narrow forehead Postaxial hand polydactyly Microdontia Ectodermal dysplasia Renal cyst Smooth philtrum Hepatic fibrosis Dolichocephaly Blepharophimosis Sparse hair Craniosynostosis Abnormality of the pinna Joint laxity Telecanthus Retrognathia Hydrops fetalis Narrow palpebral fissure Polyhydramnios Polysplenia Metopic synostosis Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Cholangitis Biliary cirrhosis High anterior hairline Cutaneous finger syndactyly Plagiocephaly Cystic hygroma Nephronophthisis Mesomelia Sparse eyebrow Preaxial polydactyly Chronic kidney disease Widely spaced teeth Cutis laxa High forehead Acidosis Poor head control Hypoventilation 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 Reduced vital capacity Hip contracture Spinal rigidity Generalized amyotrophy High pitched voice Increased variability in muscle fiber diameter Colon perforation Gowers sign Nasal speech Respiratory arrest Peroneal muscle atrophy Upslanted palpebral fissure Cardiac conduction abnormality Rod-cone dystrophy Clinodactyly Pectus excavatum Syndactyly Abnormality of the dentition Wide nasal bridge Epicanthus Cleft palate Abnormality on pulmonary function testing Muscle fiber necrosis Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Limited neck flexion Hamstring contractures Minicore myopathy Crackles Orthopnea Nocturnal hypoventilation Total absence of the pericardium Left-to-right shunt Congenital defect of the pericardium Dilatation Renal agenesis Vesicoureteral reflux Pulmonary hypoplasia Anal atresia Abnormality of cardiovascular system morphology Talipes equinovarus Short nose Metatarsal diaphyseal endosteal sclerosis Reduced tendon reflexes Metacarpal diaphyseal endosteal sclerosis Sclerotic vertebral body Clavicular sclerosis Torus palatinus Increased head circumference Thickened cortex of long bones Flat forehead Ambiguous genitalia Arnold-Chiari malformation Nasal obstruction Aplasia/Hypoplasia of the sacrum Short iliac bones Lethargy Gastroesophageal reflux Thrombocytopenia Chronic tubulointerstitial nephritis Anemia Abnormality of the wing of the ilium Abnormal vertebral segmentation and fusion Impulsivity Hypoplastic vertebral bodies Arrhinencephaly Maternal diabetes Missing ribs Abnormality of the ureter Bowel incontinence Decreased muscle mass Ectopic kidney Diaphyseal thickening Generalized osteosclerosis Wide intermamillary distance Spondylometaphyseal dysplasia Hearing impairment Iliac crest serration Dysplastic sacrum Severe platyspondyly Squared iliac bones Hypoplastic ischia Metaphyseal cupping Delayed epiphyseal ossification Nystagmus Hypokinesia Deep philtrum Short long bone Wormian bones Wide anterior fontanel Large fontanelles Micromelia Cardiomegaly Microtia Sensorineural hearing impairment Craniofacial hyperostosis Delayed skeletal maturation Abnormal cortical bone morphology Osteopetrosis Abnormal cranial nerve morphology Osteomyelitis Hyperostosis Elevated alkaline phosphatase Growth abnormality Increased intracranial pressure Hydrocephalus Cranial nerve paralysis Increased bone mineral density Abnormal form of the vertebral bodies Prominent forehead Dental malocclusion Muscular hypotonia of the trunk Mandibular prognathia Postnatal growth retardation Aciduria Coarctation of aorta Hypoplastic tricuspid valve Cataract Transposition of the great arteries Glycosuria Hyperglycemia Cleft lip Cardiac arrest Congenital diaphragmatic hernia Oligohydramnios Tetralogy of Fallot Exocrine pancreatic insufficiency Intestinal malrotation Gliosis Pulmonic stenosis Abnormal cardiac septum morphology Umbilical hernia Short foot Ventricular septal defect Congenital hypothyroidism Pulmonary artery stenosis Microcephaly Microcolon Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Round face Neonatal insulin-dependent diabetes mellitus Intermittent diarrhea Truncus arteriosus Pancreatic hypoplasia Cervical ribs Biliary atresia Perimembranous ventricular septal defect Interrupted aortic arch Prolonged partial thromboplastin time Mild microcephaly Single umbilical artery Intrauterine growth retardation Seizures Methylmalonic aciduria Elevated serum creatinine Convex nasal ridge Tachycardia Dyspnea Osteoporosis Metaphyseal widening Malar flattening Glomerulonephritis Thoracic dysplasia Mitral regurgitation Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylcobalamin Hyperhomocystinemia Methylmalonic acidemia Pes valgus Abnormal posturing Homocystinuria Hypertriglyceridemia Dental crowding Intellectual disability Delayed closure of the anterior fontanelle Abnormality of the forearm Progressive clavicular acroosteolysis Spotty hyperpigmentation Osteolytic defects of the distal phalanges of the hand Sinus tachycardia Wide cranial sutures Arteriosclerosis Lipoatrophy Insulin resistance Reduced subcutaneous adipose tissue Bundle branch block Right bundle branch block Tricuspid regurgitation Atherosclerosis Osteolysis Renal hypoplasia Sparse and thin eyebrow Fused teeth


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