Hypertension, and Pectus excavatum

Diseases related with Hypertension and Pectus excavatum

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

Top matches:

AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • High palate
  • Hypertension
  • Dilatation
  • Pectus excavatum
  • Stroke


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.

GLAUCOMA SECONDARY TO SPHEROPHAKIA/ECTOPIA LENTIS AND MEGALOCORNEA Is also known as megalocornea-spherophakia-secondary glaucoma syndrome

Related symptoms:

  • High palate
  • Visual impairment
  • Hypertension
  • Myopia
  • Pectus excavatum


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLAUCOMA SECONDARY TO SPHEROPHAKIA/ECTOPIA LENTIS AND MEGALOCORNEA

Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

FAMILIAL AORTIC DISSECTION Is also known as aortic aneurysm, familial thoracic|annuloaortic ectasia|cystic medial necrosis of aorta|aortic dissection, familial|aneurysm, thoracic aortic|faa1

Related symptoms:

  • Cataract
  • Flexion contracture
  • Hypertension
  • Dilatation
  • Pectus excavatum


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL AORTIC DISSECTION

Other less relevant matches:

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii|eds2, formerly|eds ii, formerly|ehlers danlos syndrome, mitis type, formerly|ehlers danlos syndrome, mild classic type, formerly|ehlers-danlos syndrome, type ii, formerly

Related symptoms:

  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 2

Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.

EHLERS-DANLOS SYNDROME TYPE 1 Is also known as eds i

Related symptoms:

  • Scoliosis
  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia


SOURCES: MESH ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 1

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

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

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Top 5 symptoms//phenotypes associated to Hypertension and Pectus excavatum

Symptoms // Phenotype % cases
Aortic aneurysm Uncommon - Between 30% and 50% cases
Retinal detachment Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Pectus carinatum Uncommon - Between 30% and 50% cases
Arachnodactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Aortic dissection Gastroesophageal reflux Pes planus Bruising susceptibility Flexion contracture Abnormal facial shape Ectopia lentis Hernia Myopia Dilatation Mitral valve prolapse

Rare Symptoms - Less than 30% cases

Varicose veins Inguinal hernia Umbilical hernia Kyphosis Joint hyperflexibility Congenital diaphragmatic hernia Thin skin Recurrent urinary tract infections Intellectual disability Dermal atrophy Atrophic scars Soft skin Peritonitis Craniosynostosis Joint stiffness Femoral hernia Abnormal oral cavity morphology Pes valgus Short stature Generalized hypotonia Micrognathia Aortic root aneurysm Progeroid facial appearance Lipodystrophy Ptosis Cutis laxa Myopathy Muscle weakness Bladder diverticulum Glaucoma Cataract Hypermetropia Stroke Thoracic aortic aneurysm Tall stature Atrial fibrillation Decreased HDL cholesterol concentration Restrictive ventilatory defect Spinal rigidity Rimmed vacuoles Sprengel anomaly Ankle contracture Shoulder girdle muscle weakness Limb-girdle muscle weakness Achilles tendon contracture Sagittal craniosynostosis Increased connective tissue Hyporeflexia of lower limbs Generalized amyotrophy Pelvic girdle muscle weakness Supraventricular arrhythmia Increased LDL cholesterol concentration Shoulder girdle muscle atrophy Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Permanent atrial fibrillation Ventricular escape rhythm Proximal muscle weakness in lower limbs Myotonia Toe walking Abnormal lung morphology Limb muscle weakness Lower limb muscle weakness Paresthesia Ichthyosis Vertigo Sudden cardiac death Waddling gait Subcutaneous hemorrhage Lumbar hyperlordosis Hypertriglyceridemia Palpitations Diplopia Congenital muscular dystrophy Arterial thrombosis Elbow flexion contracture Scapular winging Reduced tendon reflexes EMG: myopathic abnormalities Cerebral ischemia Atrioventricular block Back pain Esophageal varix Limb-girdle muscular dystrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Pelvic girdle muscle atrophy Full cheeks Gastrointestinal hemorrhage Recurrent fractures Genu valgum Elevated hepatic transaminase Osteoporosis Nephropathy Behavioral abnormality Optic atrophy Hepatomegaly Seizures Broad phalanx of the toes Asthma Psychosis Ectodermal dysplasia Hip dysplasia Limb undergrowth Hepatic fibrosis Bone marrow hypocellularity Recurrent pneumonia Cone/cone-rod dystrophy Chronic kidney disease Nephronophthisis Cutaneous finger syndactyly Broad distal phalanx of finger Short distal phalanx of finger Sparse scalp hair Absent muscle fiber emerin Rod-cone dystrophy Elevated serum creatinine Restricted neck movement due to contractures Brachydactyly Frontal bossing Abnormality of the skeletal system Abnormality of the dentition Renal insufficiency Pneumonia Arteriovenous malformation Pulmonary embolism Disproportionate tall stature Hemiplegia/hemiparesis Dental crowding Intracranial hemorrhage Protruding ear Narrow chest Smooth philtrum Stage 5 chronic kidney disease Urticaria Joint hypermobility Venous thrombosis Abnormality of retinal pigmentation Anorexia Amblyopia Thin vermilion border Dilated cardiomyopathy High myopia Muscular dystrophy Descending aortic dissection Hypoplastic left heart Exertional dyspnea Dilatation of the cerebral artery Peripheral arterial stenosis Left ventricular failure Abdominal aortic aneurysm Ascending aortic dissection Cystic medial necrosis Carotid artery dilatation Descending thoracic aorta aneurysm Paroxysmal dyspnea Cutis marmorata Cystic medial necrosis of the aorta Iris flocculi Joint laxity Hyperextensible skin Generalized joint laxity Cigarette-paper scars Joint dislocation Hallux valgus Abnormal heart valve morphology Genu recurvatum Microcephaly Coronary artery atherosclerosis Bicuspid aortic valve Feeding difficulties Iridodonesis Ventricular hypertrophy Left ventricular hypertrophy Paroxysmal atrial fibrillation Visual impairment Blurred vision Congenital glaucoma Megalocornea Buphthalmos Homocystinuria Anterior synechiae of the anterior chamber Iris atrophy Microspherophakia Aortic regurgitation Primary congenital glaucoma Deep anterior chamber Increased arm span Axial myopia Patent ductus arteriosus Coloboma Chest pain Cardiomegaly Coarctation of aorta Aortic valve stenosis Atherosclerosis Low-set ears Motor delay Hyperlordosis Narrow nose Retrognathia Prominent nasal bridge Arthrogryposis multiplex congenita High, narrow palate Premature birth Oligohydramnios Increased body weight Relative macrocephaly Reduced subcutaneous adipose tissue Scaphocephaly Severe intrauterine growth retardation Entropion Prominent forehead Hyperextensibility of the finger joints Dural ectasia Narrow palm Prominent scalp veins Muscular hypotonia Skeletal muscle atrophy Gait disturbance Obesity Arrhythmia Elevated serum creatine phosphokinase Proximal muscle weakness Proptosis Hydrocephalus Short neck Bilateral ptosis Cardiomyopathy Long philtrum Clinodactyly Thin upper lip vermilion Falls Bulbous nose Everted lower lip vermilion Webbed neck Underdeveloped nasal alae Low posterior hairline Frequent falls Mild short stature Downslanted palpebral fissures Centrally nucleated skeletal muscle fibers Thoracolumbar scoliosis Nemaline bodies Fused cervical vertebrae Acetabular dysplasia Cervical C2/C3 vertebral fusion Limitation of neck motion Growth delay Failure to thrive Intrauterine growth retardation Macrocephaly Abnormality of amino acid metabolism


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