Hypertension, and Everted lower lip vermilion
Diseases related with Hypertension and Everted lower lip vermilion
In the following list you will find some of the most common rare diseases related to Hypertension and Everted lower lip vermilion 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
More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
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 SYNDROMEMedium match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
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 DYSPLASIAOther less relevant matches:
Medium match CRANIOECTODERMAL DYSPLASIA 2; CED2
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
More info about CRANIOECTODERMAL DYSPLASIA 2; CED2
Medium match 3Q29 MICRODELETION SYNDROME
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 SYNDROMEMedium match FEINGOLD SYNDROME 1; FGLDS1
Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006).
FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about FEINGOLD SYNDROME 1; FGLDS1Medium match 17Q21.31 MICRODELETION SYNDROME
Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).
17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about 17Q21.31 MICRODELETION SYNDROMEMedium match GORLIN-CHAUDHRY-MOSS SYNDROME
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 SYNDROMEMedium match AGEL AMYLOIDOSIS
AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.
AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f
Related symptoms:
- Cataract
- Ptosis
- Peripheral neuropathy
- Cardiomyopathy
- Renal insufficiency
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about AGEL AMYLOIDOSISMedium match HURLER SYNDROME
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Scoliosis
SOURCES: OMIM ORPHANET MENDELIAN
More info about HURLER SYNDROMETop 5 symptoms//phenotypes associated to Hypertension and Everted lower lip vermilion
| Symptoms // Phenotype | % cases |
|---|---|
| Depressed nasal bridge | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Abnormality of the dentition | Common - Between 50% and 80% cases |
| Low-set ears | Common - Between 50% and 80% cases |
| Micrognathia | Common - Between 50% and 80% cases |
Other less frequent symptoms
Patients with Hypertension and Everted lower lip vermilion. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Short statureUncommon Symptoms - Between 30% and 50% cases
Intellectual disability Microdontia Microcephaly Frontal bossing High palate Hearing impairment Scoliosis Clinodactyly Feeding difficulties Cognitive impairment Hypertelorism Long philtrum Epicanthus Pectus excavatum Patent ductus arteriosus Anteverted nares Sparse hair Thick vermilion border Hernia Brachydactyly Blepharophimosis Left ventricular hypertrophy Narrow palpebral fissure Thin upper lip vermilion Underdeveloped nasal alae Craniosynostosis Widely spaced teeth Upslanted palpebral fissure Inguinal hernia Abnormal heart morphology Oral cleft Cataract Short nose Dry skin Macrotia Posteriorly rotated ears Depressivity Delayed speech and language development Syndactyly Renal insufficiency Failure to thrive Abnormality of the skeletal system Wide nasal bridge Cleft palate Vomiting Cardiomyopathy Generalized hypotonia Short distal phalanx of finger Delayed eruption of teeth Ectodermal dysplasia Sparse eyelashes Hypoplastic nipples High, narrow palate Absent nipple Conductive hearing impairment Joint laxity Hydrocephalus Short neck Ptosis Abnormal facial shapeRare Symptoms - Less than 30% cases
Hypertrichosis Abnormal form of the vertebral bodies Abnormal vertebral morphology Hip dysplasia Heterotopia Bicuspid aortic valve Aortic aneurysm Growth delay Respiratory insufficiency Proptosis Umbilical hernia Synophrys Generalized hirsutism Polysplenia Macrocephaly Corneal dystrophy Hypoplasia of the corpus callosum Corneal opacity Sparse eyebrow Intrauterine growth retardation Cutis laxa Protruding tongue Glaucoma Full cheeks Smooth philtrum Dolichocephaly Abnormality of the skull Poor speech Downslanted palpebral fissures Sensorineural hearing impairment Prominent nasal bridge Triangular face Seizures Shallow orbits Nasal speech Pulmonary arterial hypertension Single transverse palmar crease Long face Abnormality of skin pigmentation Atrial septal defect Kyphosis Facial asymmetry Small for gestational age Pallor Pectus carinatum Behavioral abnormality Intellectual disability, moderate Cleft lip Broad forehead Aggressive behavior Anxiety Gastroesophageal reflux Short palpebral fissure Hyperactivity Cryptorchidism Clinodactyly of the 5th finger Abnormality of the foot Hypospadias Microphthalmia Hypermetropia Pulmonic stenosis Abnormality of the pinna Sparse scalp hair Respiratory distress Recurrent respiratory infections Prominent forehead Respiratory tract infection Hypoplasia of the maxilla Eczema Type I diabetes mellitus Periorbital wrinkles Hoarse voice Prominent supraorbital ridges Rhinitis Conical tooth Sparse and thin eyebrow Hepatomegaly Oligodontia Absent eyebrow Hypohidrosis Anterior hypopituitarism Muscle weakness Flexion contracture Motor delay Everted upper lip vermilion Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Heat intolerance Low posterior hairline Anodontia Soft skin Sparse body hair Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Bulbous nose Anhidrosis Splenomegaly Periorbital hyperpigmentation High forehead Polyhydramnios Hypotrichosis Thin skin Hyperhidrosis Retrognathia Depressed nasal ridge Elevated hepatic transaminase Hypodontia Proteinuria Midface retrusion Myocardial infarction Interphalangeal joint contracture of finger Progressive neurologic deterioration Recurrent otitis media Intellectual disability, profound Lumbar hyperlordosis Cardiomegaly Cardiac amyloidosis Peripheral neuropathy Split hand Abnormality of the ribs Abnormality of the cardiovascular system Progressive visual loss Paralysis Abnormality of the skin Limitation of joint mobility Asthma Broad nasal tip Abnormal mandibular ramus morphology Chronic diarrhea Mitral regurgitation Elbow flexion contracture Upper eyelid coloboma Cerebral palsy Aortic regurgitation Coxa vara Opacification of the corneal stroma Absent distal phalanges Abnormality of dental enamel Spastic paraparesis Wide nasal ridge Coxa valga Exotropia Encephalocele Gingival overgrowth Hypoplasia of the abdominal wall musculature Congenital craniofacial dysostosis Aplastic/hypoplastic lacrimal glands Abnormality of epiphysis morphology Thickened skin Long eyelashes Aplasia/Hypoplasia of the nasal bone Sleep disturbance Decreased body weight Macroglossia Wide nose Neurodegeneration Arrhythmia Palpitations Abnormal autonomic nervous system physiology Bulbar palsy Orthostatic hypotension Pes cavus Amyloidosis Pneumonia Abnormality of abdomen morphology Constipation Bulbar signs Visual loss Dyspnea Facial paralysis Headache Congestive heart failure Diarrhea Edema Mild proteinuria Lattice corneal dystrophy Skeletal muscle atrophy Muscular hypotonia Generalized amyloid deposition Abdominal pain Nephrotic syndrome Inability to walk Abnormal pyramidal sign Bilateral facial palsy Hirsutism Thick eyebrow Retinal degeneration Genu valgum Abnormality of eye movement Carious teeth Severe global developmental delay Stroke Nyctalopia Camptodactyly of finger Kyphoscoliosis Retinopathy Wide mouth Joint stiffness Mental deterioration Apnea Hepatosplenomegaly Coarse facial features Polyneuropathy Hypotension Skeletal dysplasia Osteopenia Abnormality of premolar morphology Hemiplegia Progressive hearing impairment Abnormal diaphysis morphology Biconcave vertebral bodies Chronic rhinitis Retinal fold Hypoplasia of the femoral head Calcification of falx cerebri Abnormality of the tonsils C1-C2 subluxation Recurrent ear infections Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Diaphyseal thickening Large face Abnormality of lysosomal metabolism Delayed ossification of carpal bones Broad femoral neck Flaring of rib cage Broad ischia Absence of subcutaneous fat Rhinorrhea Abnormality of joint mobility Delayed tarsal ossification Thick skull base Abnormality of peripheral nerve conduction Deformed humerus Mucopolysacchariduria Sclerosis of skull base Sagittal craniosynostosis Hip subluxation Abnormal CNS myelination Cervical kyphosis Short mandibular rami Urinary glycosaminoglycan excretion Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Heparan sulfate excretion in urine Dermatan sulfate excretion in urine Difficulty standing Abnormality of mucopolysaccharide metabolism Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Abnormality of the pubic bone Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Myelopathy Enlarged vertebral pedicles Sleep apnea Coronary artery atherosclerosis Abnormality of the elbow Peripheral visual field loss Protuberant abdomen Palpebral edema Hypoplasia of the odontoid process Short clavicles Thoracic scoliosis Spinal canal stenosis Arthropathy Thickened calvaria Abnormal heart valve morphology Restrictive ventilatory defect Flared metaphysis Obstructive sleep apnea Multiple joint contractures Metatarsus adductus Toe walking Heart murmur Stridor Language impairment Lumbar kyphosis Back pain Recurrent upper respiratory tract infections Increased intracranial pressure Hyperammonemia Abnormal mandible coronoid process morphology Recurrent lower respiratory tract infections Abnormality of the clavicle Hypoplasia of teeth Hypoplastic ilia Abnormal aortic valve morphology Constrictive median neuropathy Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Proximal tapering of metacarpals Flared iliac wings Bullet-shaped phalanges of the hand Cor pulmonale Angina pectoris Broad long bone diaphyses Gingivitis Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Upper airway obstruction Communicating hydrocephalus Large earlobe Beaking of vertebral bodies Tracheal stenosis Abnormality of the tympanic membrane Abnormality of the respiratory system Dysostosis multiplex Stiff interphalangeal joints Diastasis recti Recurrent aspiration pneumonia Abnormality of the genitourinary system Dermal translucency Tapered finger Bipolar affective disorder Sandal gap Horseshoe kidney Narrow face Aspiration Aortic valve stenosis Anorexia Stereotypy Dental crowding Psychosis Prominent nose Joint hyperflexibility Subvalvular aortic stenosis Short philtrum Attention deficit hyperactivity disorder Autism Gait ataxia Gait disturbance Ataxia Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Broad face Six lumbar vertebrae Broad philtrum 2-3 toe syndactyly Abnormality of the spleen Duodenal atresia Asplenia Short 5th finger Depressed nasal tip Vocal cord paralysis External ear malformation Esophageal atresia Abnormality of digit Prominent occiput Hallux valgus Short middle phalanx of finger Finger syndactyly Tracheoesophageal fistula Nephritis Abnormality of the hand Finger clinodactyly Short toe Short thumb Choanal atresia Decreased fetal movement Specific learning disability Anal atresia Toe syndactyly Cloverleaf skull Cholangitis Intestinal atresia Acetabular dysplasia Concave nail Taurodontia Absent eyelashes Brittle hair Dysphonia Short chin Immunodeficiency Intellectual disability, severe Fever Limitation of neck motion Cervical C2/C3 vertebral fusion Fused cervical vertebrae Aplasia/Hypoplastia of the eccrine sweat glands Nemaline bodies Thoracolumbar scoliosis Centrally nucleated skeletal muscle fibers Mild short stature Bilateral ptosis Frequent falls Webbed neck Falls Myopathy Palmoplantar hyperkeratosis Hyperkeratosis Abnormal oral mucosa morphology Hypoplastic-absent sebaceous glands Biliary cirrhosis Hepatic fibrosis High anterior hairline Cutaneous finger syndactyly Cystic hygroma Nephronophthisis Mesomelia Preaxial polydactyly Patent foramen ovale Chronic kidney disease Plagiocephaly Hyperbilirubinemia Short ribs Hydrops fetalis Rod-cone dystrophy Rhizomelia Cholestasis Narrow forehead Postaxial hand polydactyly Limb undergrowth Renal cyst Stage 5 chronic kidney disease Narrow chest Telecanthus Acidosis Polydactyly Periorbital fullness Accessory spleen Hypoplasia of the musculature Micropenis Oligohydramnios Convex nasal ridge Intestinal malrotation Sepsis Pulmonary hypoplasia Astigmatism Platyspondyly Postnatal growth retardation Abnormality of the eye Mandibular prognathia Narrow mouth Brachycephaly Small nail Cerebellar hypoplasia Delayed skeletal maturation Intellectual disability, mild Nystagmus Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Broad chin Conspicuously happy disposition Pear-shaped nose Narrow palm Cerebellar vermis hypoplasia Pachygyria Expressive language delay Natal tooth Pneumothorax Deep palmar crease Prominent superficial veins Premature skin wrinkling Abnormal eyelid morphology Sclerocornea Coronal craniosynostosis Turricephaly Underdeveloped supraorbital ridges Prematurely aged appearance Anteriorly placed anus Reduced subcutaneous adipose tissue Recurrent urinary tract infections Anonychia Bilateral cryptorchidism Tricuspid regurgitation Large hands Redundant skin Coarse hair Abnormality of vision Abnormality of the metacarpal bones Scrotal hypoplasia Low anterior hairline Wide anterior fontanel Multifocal epileptiform discharges Prominent fingertip pads Frontal balding Hypothyroidism Small hand Joint hypermobility Cleft upper lip Arachnodactyly Hip dislocation Abnormal cardiac septum morphology Scarring Protruding ear Feeding difficulties in infancy Hydronephrosis Pes planus Absent speech Otitis media Abnormality of cardiovascular system morphology Ventriculomegaly Ventricular septal defect Strabismus Deviation of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 4-5 toe syndactyly Small anterior fontanelle Annular pancreas Aplasia of the middle phalanx of the hand Vesicoureteral reflux Focal-onset seizure Chronic infection Impulsivity Anteverted ears Abnormality of the head Abnormality of hair texture Glioma Spondylolisthesis Prominent metopic ridge Slender finger Abnormality of the sternum Vertebral fusion Long fingers Cortical dysplasia Overfolded helix Wide intermamillary distance Elbow dislocation Failure to thrive in infancy Pyloric stenosis Abnormality of the urinary system Laryngomalacia Sacral dimple Joint dislocation Narrow palate Abnormality of the genital system Open mouth Status epilepticus Hypotelorism Delayed ossification of the hand bonesIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Renal dysplasia, related diseases and genetic alterations Ventricular septal defect and Abnormality of movement, related diseases and genetic alterations Hyperreflexia and Apraxia, related diseases and genetic alterations Cardiomyopathy and Thin vermilion border, related diseases and genetic alterations