Hypertension, and Pectus carinatum

Diseases related with Hypertension and Pectus carinatum

In the following list you will find some of the most common rare diseases related to Hypertension and Pectus carinatum 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

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

Other less relevant matches:

Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

JUVENILE PAGET DISEASE Is also known as familial osteoectasia|hyperphosphatasia, familial idiopathic|juvenile paget disease|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|juvenile paget's disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PAGET DISEASE

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

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

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

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

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

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Hearing impairment Sensorineural hearing impairment Retinal detachment Muscle weakness Pain Inguinal hernia High palate Growth delay Cataract Cleft palate Scoliosis Varicose veins Recurrent fractures Osteoporosis Severe short stature Myopia Short neck Respiratory distress Midface retrusion Microcephaly Pulmonic stenosis Low-set ears Aortic dissection Umbilical hernia Joint laxity Aortic aneurysm Joint hyperflexibility Gastroesophageal reflux Pes planus

Rare Symptoms - Less than 30% cases

Glaucoma Anorexia Micrognathia Posteriorly rotated ears Abnormal facial shape Delayed speech and language development Seizures Epicanthus Hepatomegaly Hypospadias Patent ductus arteriosus Sleep apnea Dental crowding Behavioral abnormality Psychosis Depressivity Genu valgum Clinodactyly Sparse scalp hair Failure to thrive Unilateral renal agenesis Skeletal dysplasia Lumbar hyperlordosis Kyphoscoliosis Flat face Platyspondyly Limited elbow movement Respiratory tract infection Apnea Cryptorchidism Mitral valve prolapse Arachnodactyly Malar flattening Congestive heart failure Abnormality of the skeletal system Talipes equinovarus Gait disturbance Ptosis Hypertelorism Generalized hypotonia Atrophic scars Soft skin Coxa vara Congenital diaphragmatic hernia Bowing of the long bones Retinal degeneration Pulmonary arterial hypertension Aortic valve stenosis Pneumonia Abnormality of the dentition Macrocephaly Bruising susceptibility Thin skin Abnormality of retinal pigmentation Recurrent urinary tract infections Dermal atrophy Respiratory insufficiency Abnormal oral cavity morphology Femoral hernia Bladder diverticulum Peritonitis Subvalvular aortic stenosis Single transverse palmar crease Optic atrophy Tapered finger Mitral regurgitation Premature loss of teeth Barrel-shaped chest Dilatation Mutism Protruding ear Abnormal heart morphology Atrial septal defect Abnormality of lipid metabolism Intellectual disability, mild Iron deficiency anemia Abnormality of cardiovascular system morphology Syncope Arrhythmia Long fingers Chest pain Alopecia Hypertrophic cardiomyopathy Triangular face Hyperkeratosis Splenomegaly Micropenis Mandibular prognathia Tented upper lip vermilion Neonatal hypotonia Conductive hearing impairment Delayed puberty Cutis laxa Failure to thrive in infancy Thrombocytopenia Cardiomyopathy Hydronephrosis Asthma Renal agenesis Sepsis Giant platelets Congenital neutropenia Erythroid hypoplasia Monocytosis Neutropenia Intermittent thrombocytopenia Neonatal sepsis Broad thumb Bronchiectasis Recurrent infections Cor triatriatum Leukopenia Hypoplasia of the thymus Hepatosplenomegaly Neoplasm Strabismus Lymphopenia Prominent superficial veins Fatigue Recurrent bacterial infections Recurrent respiratory infections Plagiocephaly Abnormal mitral valve morphology Webbed neck Generalized hirsutism Skeletal muscle hypertrophy Myotonia Overfolded helix Metaphyseal widening Narrow palpebral fissure Coxa valga EMG abnormality Hip contracture Congenital hip dislocation Abnormal autonomic nervous system physiology Elbow flexion contracture Joint contracture of the hand Decreased testicular size Full cheeks Microcornea High pitched voice Malignant hyperthermia Blepharophimosis Talipes valgus Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Shoulder flexion contracture Pursed lips Percussion myotonia Temperature instability Blepharospasm Flexion contracture of toe Spinal deformities Weak voice Wrist flexion contracture Hypoplasia of the musculature Coronal cleft vertebrae Constrictive median neuropathy Talipes Camptodactyly Overgrowth Bilateral cryptorchidism Hyposmia Angina pectoris Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Cubitus valgus Multiple lentigines Pterygium Spina bifida occulta Scapular winging Cafe-au-lait spot Abnormality of the genital system Depressed nasal ridge Myocardial infarction Abnormal aortic valve morphology Parietal bossing Rigidity Dysphagia Osteopenia Proptosis Narrow mouth Hyperhidrosis Delayed skeletal maturation Hyporeflexia Myopathy Skeletal muscle atrophy Delayed menarche Fever Flexion contracture Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Wide nasal bridge Gait ataxia Anemia Cerebral ischemia Paroxysmal atrial fibrillation Elevated hepatic transaminase Joint stiffness Gastrointestinal hemorrhage Amblyopia Venous thrombosis Urticaria Intracranial hemorrhage Ectopia lentis Hemiplegia/hemiparesis Disproportionate tall stature Pulmonary embolism Arteriovenous malformation Esophageal varix Arterial thrombosis Hydroxyprolinemia Arthritis Micromelia Narrow chest Hip dislocation Broad forehead Autoimmunity Hyperlordosis Polydactyly Subcutaneous hemorrhage Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Muscular hypotonia Nystagmus Abnormality of amino acid metabolism Thoracic aortic aneurysm Hydroxyprolinuria Pulmonary hypoplasia Increased bone mineral density Generalized joint laxity Cigarette-paper scars Joint dislocation Hallux valgus Abnormal heart valve morphology Genu recurvatum Hyperextensible skin Motor delay Brachycephaly Respiratory failure Arthralgia Scarring Retinopathy Subcutaneous nodule Elevated alkaline phosphatase Elevated serum acid phosphatase Vertebral compression fractures Macular scar Angioid streaks of the fundus Limb pain Rough bone trabeculation Cranial hyperostosis Lower limb pain Hyperphosphatemia Melanocytic nevus Abnormality of the clavicle Ankylosis Severe sensorineural hearing impairment Hyperuricemia Thickened calvaria Hyperostosis Paresthesia Limitation of joint mobility Six lumbar vertebrae Prominent nasal bridge Frontal bossing Short nose Microphthalmia Clinodactyly of the 5th finger Hyperactivity Autism Macrotia Thin upper lip vermilion Anxiety Aggressive behavior Cleft lip Intellectual disability, moderate Attention deficit hyperactivity disorder Short philtrum Small for gestational age Cognitive impairment Narrow face Broad face Shallow orbits Bipolar affective disorder Nasal speech Sandal gap Horseshoe kidney Aspiration Facial asymmetry Stereotypy Prominent nose Everted lower lip vermilion Long face Abnormality of skin pigmentation Oral cleft Downslanted palpebral fissures Stroke Waddling gait Short thorax Limb undergrowth High myopia Osteoarthritis Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Rhizomelia Growth abnormality Genu varum Back pain Spondyloepiphyseal dysplasia Bowing of the legs Vestibular dysfunction Restrictive ventilatory defect Ataxia Limited hip movement Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Cervical myelopathy Progressive sensorineural hearing impairment Flattened epiphysis Myelopathy Ovoid vertebral bodies Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Anterior bowing of long bones


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