Hypertension, and Microdontia

Diseases related with Hypertension and Microdontia

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

Top matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

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:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low 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

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Microdontia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormality of the dentition Common - Between 50% and 80% cases
Delayed eruption of teeth Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Global developmental delay Growth delay Sparse hair Hearing impairment Short nose Everted lower lip vermilion Agenesis of permanent teeth Intrauterine growth retardation Anemia Sensorineural hearing impairment Frontal bossing Hip dislocation Feeding difficulties Microcephaly Scoliosis Hypoplastic nipples Nystagmus Flexion contracture Renal insufficiency Proteinuria Astigmatism Epicanthus Hypertelorism Flat face Delayed skeletal maturation Atrial septal defect Cognitive impairment Generalized hypotonia Rectovaginal fistula Anteriorly placed anus Congenital hip dislocation Anal atresia Micrognathia Strabismus Abnormality of the pinna Abnormal heart morphology Anteverted nares Abnormality of the skeletal system Brachydactyly Sparse scalp hair Low-set ears Short chin Alopecia Hypoplasia of the maxilla Short distal phalanx of finger Sparse eyelashes Aplasia/Hypoplasia of the eyebrow Oligodontia Absent nipple Ectodermal dysplasia Hypodontia Thin skin Hypotrichosis

Rare Symptoms - Less than 30% cases

Pneumonia Microphthalmia Diarrhea Vomiting Talipes equinovarus Hoarse voice Cataract Type I diabetes mellitus Dermal translucency Colonic diverticula Seizures Abnormal facial shape Chronic kidney disease Widely spaced teeth Hyperbilirubinemia Thin upper lip vermilion Glaucoma Micropenis Upslanted palpebral fissure Polyhydramnios Retrognathia Elevated hepatic transaminase Telecanthus Joint laxity Craniosynostosis Postnatal growth retardation Abnormality of skin pigmentation Platyspondyly Redundant skin Smooth philtrum Stage 5 chronic kidney disease Cholestasis Hyperhidrosis Mandibular prognathia Aortic aneurysm Generalized muscle weakness Abnormality of cardiovascular system morphology High, narrow palate Dilatation Prematurely aged appearance Convex nasal ridge Intestinal malrotation Malabsorption Steatorrhea Thick vermilion border Failure to thrive Muscular hypotonia Long philtrum Ventricular septal defect Cardiomyopathy Hydroureter Underdeveloped nasal alae Small for gestational age Hypospadias Corneal opacity Sparse and thin eyebrow Hypohidrosis Hyperkeratosis Pneumothorax Respiratory insufficiency Hydrocephalus Umbilical hernia Narrow mouth Growth hormone deficiency Short palpebral fissure Telangiectasia Proptosis Depressed nasal ridge Inguinal hernia Left ventricular hypertrophy Patent ductus arteriosus Epiphyseal dysplasia Abnormal form of the vertebral bodies Heterotopia Neoplasm of the skin Bone marrow hypocellularity Cafe-au-lait spot Abnormality of epiphysis morphology Cutaneous photosensitivity Conductive hearing impairment Hypoplasia of the corpus callosum Anterior hypopituitarism Ptosis Coarse hair Erythema Deeply set eye Dementia Hypermetropia Anhidrotic ectodermal dysplasia Cerebellar atrophy Hypohidrotic ectodermal dysplasia Everted upper lip vermilion Periorbital wrinkles Periorbital hyperpigmentation Neoplasm Fever Respiratory distress Melanocytic nevus Intellectual disability, severe Immunodeficiency Spondyloepiphyseal dysplasia Transient ischemic attack Broad forehead Brain atrophy Hypothyroidism Joint hyperflexibility Premature birth Anhidrosis Short neck Hepatomegaly Migraine Sparse body hair Syndactyly Midface retrusion Hernia Absent eyebrow Soft skin Anodontia Heat intolerance Cleft palate Pectus excavatum Arteriosclerosis Mitral valve prolapse Abnormality of the skin Abnormal bleeding Hypoplasia of the capital femoral epiphysis Bruising susceptibility Joint hypermobility Encephalomalacia Drooling Thin vermilion border Vertigo Carious teeth Cellular immunodeficiency Osteolysis Abnormal intestine morphology Dentinogenesis imperfecta Right ventricular cardiomyopathy Osteoarthritis Blue sclerae Shallow acetabular fossae Abnormal immunoglobulin level Moyamoya phenomenon Joint dislocation Hypoplasia of dental enamel Increased thyroid-stimulating hormone level Cardiac arrest Steroid-resistant nephrotic syndrome Abnormal T cell morphology Multiple lentigines Gingival overgrowth Subcutaneous nodule Abnormality of the face Mucopolysacchariduria Short phalanx of finger Abnormality of dental enamel Protruding ear Prominent metopic ridge Arthritis Pes valgus Atrioventricular canal defect Hypoplastic helices Squared iliac bones Short philtrum Hemiatrophy Lumbar scoliosis Midline defect of the nose Vocal cord paresis Delayed ossification of carpal bones Intellectual disability, moderate Thin eyebrow Coronal cleft vertebrae Complete atrioventricular canal defect Metaphyseal dysplasia Short humerus Abnormality of the larynx Delayed epiphyseal ossification Hypoplasia of the odontoid process Congenital cataract Abnormality of dental morphology Broad skull Premature arteriosclerosis Abnormality of pelvic girdle bone morphology Hip dysplasia Genu valgum Short long bone Nephrosclerosis Short metacarpal Lateral displacement of the femoral head Macrocephaly CNS hypomyelination Pain Proximal placement of thumb Bilateral ptosis Delayed speech and language development Ventriculomegaly Absent epiphyses Laryngeal obstruction Extrahepatic biliary duct atresia Omphalocele Overfolded helix Crumpled ear Anterior pituitary dysgenesis Osteolytic defects of the phalanges of the hand Sleep apnea Abnormality of the foot Recurrent urinary tract infections Pachygyria Hypertrichosis Small nail Low posterior hairline Cerebellar vermis hypoplasia Pulmonary arterial hypertension Oligohydramnios Sepsis Aplastic/hypoplastic lacrimal glands Triangular face Pulmonary hypoplasia Synophrys Low anterior hairline Abnormality of the eye Gastroesophageal reflux Brachycephaly Posteriorly rotated ears Cerebellar hypoplasia Intellectual disability, mild Downslanted palpebral fissures Muscle weakness Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Wide anterior fontanel Generalized hirsutism Arteriovenous fistulas of celiac and mesenteric vessels Abnormality of the skull Upper eyelid coloboma Absent distal phalanges Wide nasal ridge Recurrent aspiration pneumonia Absence of subcutaneous fat Hypoplasia of the musculature Deep palmar crease Prominent superficial veins Premature skin wrinkling Abnormal eyelid morphology Sclerocornea Coronal craniosynostosis Turricephaly Bicuspid aortic valve Hypoplasia of the abdominal wall musculature Congenital craniofacial dysostosis Underdeveloped supraorbital ridges Protruding tongue Natal tooth Reduced subcutaneous adipose tissue Anonychia Bilateral cryptorchidism Tricuspid regurgitation Large hands Abnormality of vision Abnormality of the metacarpal bones Scrotal hypoplasia Hypoplastic lacrimal duct Uterine prolapse Tinnitus Sprengel anomaly Varicose veins Hematochezia Abnormally large globe Periodontitis Aortic dissection Gingivitis Narrow nose Abnormal eyelash morphology Subarachnoid hemorrhage Dilatation of the cerebral artery Alopecia of scalp Premature loss of teeth Esophageal atresia Aplasia/Hypoplasia of the earlobes Hemoptysis Keratoconus Scleroderma Abnormal joint morphology Fragile skin Abnormal heart valve morphology Telangiectasia of the skin Narrow nasal bridge Macule Rheumatoid arthritis Hypokalemia Abnormality of the urinary system Reduced consciousness/confusion Abnormal pupil morphology Uterine rupture Cigarette-paper scars Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Arterial dissection Aplasia/Hypoplasia of the abdominal wall musculature Internal hemorrhage Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Precocious atherosclerosis Ascending tubular aorta aneurysm Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Periorbital edema Bladder diverticulum Subvalvular aortic stenosis Skin dimples Cerebral ischemia Cutaneous finger syndactyly Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Cholangitis Biliary cirrhosis High anterior hairline Polysplenia Cystic hygroma Osteoporosis Nephronophthisis Mesomelia Sparse eyebrow Preaxial polydactyly Patent foramen ovale Cutis laxa Plagiocephaly Narrow palpebral fissure Short ribs Hepatic fibrosis Hydrops fetalis Fused teeth Hypogonadism Narrow forehead Squamous cell carcinoma Concave nasal ridge Poikiloderma Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Increased number of teeth Skin vesicle Absent thumb Basal cell carcinoma Premature graying of hair Pyloric stenosis Kyphoscoliosis Sarcoma Dermal atrophy Short thumb Microcornea Hypopigmentation of the skin Short foot Small hand Short palm Nail dystrophy Skin rash Skeletal dysplasia Rhizomelia Postaxial hand polydactyly Acantholysis Conical tooth Attention deficit hyperactivity disorder Abnormality of the nervous system Photophobia Hyperactivity Cerebral atrophy Tremor Ataxia Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Abnormal oral mucosa morphology Concave nail Taurodontia Muscle cramps Absent eyelashes Rhinitis Brittle hair Prominent supraorbital ridges Dysphonia Eczema Dry skin Respiratory tract infection Prominent forehead Recurrent respiratory infections Palmoplantar hyperkeratosis Papule Progressive cerebellar ataxia Limb undergrowth Wide nasal bridge Full cheeks Renal cyst Narrow chest Dolichocephaly Blepharophimosis High forehead Acidosis Polydactyly Rod-cone dystrophy Clinodactyly Splenomegaly High palate Chorea Numerous pigmented freckles Seborrheic keratosis Cholangiocarcinoma Defective DNA repair after ultraviolet radiation damage Morphological abnormality of the central nervous system Verrucae Tubular atrophy Freckling Decreased body weight Prominent nose Delayed myelination Patellar aplasia Skin erosion Villous atrophy Scarring Nephrotic syndrome Decreased testicular size Waddling gait Lymphoma Gliosis Abnormal cerebellum morphology Neutropenia Nephropathy Bulbous nose Stroke Autoimmunity Hyperlordosis Intellectual disability, profound Developmental regression Abnormality of the kidney Osteopenia Thrombocytopenia Recurrent infections Headache Kyphosis Congestive heart failure Myopia Motor delay Midline skin dimples over anterior/posterior fontanelles Lumbar hyperlordosis Fine hair Urethrovaginal fistula High pitched voice Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Hypermelanotic macule Combined immunodeficiency Emphysema Abnormal lung morphology Focal segmental glomerulosclerosis Nephritis Glomerulonephritis Glomerulosclerosis Encephalitis Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Lymphopenia Hypoplasia of the primary teeth Abnormality of the female genitalia Aplasia/Hypoplasia of the patella Hydronephrosis Abnormality of the nail Situs inversus totalis Hypoplasia of penis Abdominal distention Single transverse palmar crease Downturned corners of mouth Hepatic failure Dilated cardiomyopathy Abnormal cardiac septum morphology Abnormality of the liver Cleft lip Diabetes mellitus Pointed chin Severe short stature Clinodactyly of the 5th finger Edema Fatigue Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Hypocalcemia Severe muscular hypotonia Malrotation of small bowel Hypoproteinemia Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Abnormality of the nares Uterus didelphys Frontal upsweep of hair Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Abnormal hair pattern Abnormality of the genitourinary system Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypopituitarism Glycosuria Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Aplasia/Hypoplasia of the nasal bone


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