Hypertension, and Thin upper lip vermilion

Diseases related with Hypertension and Thin upper lip vermilion

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

Top matches:

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

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

Medium match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Other less relevant matches:

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

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

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

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

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

Top 5 symptoms//phenotypes associated to Hypertension and Thin upper lip vermilion

Symptoms // Phenotype % cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Thin upper lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Myopia Osteopenia Motor delay Generalized hypotonia Micrognathia High palate Long philtrum Microcephaly Cognitive impairment Failure to thrive Muscular hypotonia Downslanted palpebral fissures Short neck Short nose Glaucoma Hypothyroidism Inguinal hernia Recurrent infections Hernia Scoliosis Posteriorly rotated ears Depressed nasal bridge Intrauterine growth retardation Talipes equinovarus Anteverted nares Subvalvular aortic stenosis Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Smooth philtrum Anemia Delayed speech and language development Sensorineural hearing impairment Hearing impairment Coxa valga Shallow acetabular fossae Low-set, posteriorly rotated ears Congestive heart failure Broad face Joint laxity Intellectual disability, moderate Hip dislocation Waddling gait Cerebellar atrophy Macrocephaly Seizures Thoracolumbar scoliosis Craniosynostosis Hyperlordosis Abnormality of the kidney Pneumonia Frontal bossing Abnormality of skin pigmentation Abnormality of the skeletal system Hyperactivity Epicanthus Attention deficit hyperactivity disorder Diabetes mellitus Everted lower lip vermilion Bulbous nose Clinodactyly Pectus excavatum Cardiomyopathy Muscle weakness Congenital hypothyroidism Broad forehead Facial asymmetry Upslanted palpebral fissure Ptosis Narrow mouth Polydactyly Renal hypoplasia Oral cleft Stage 5 chronic kidney disease Respiratory tract infection Cleft lip Proteinuria Brachydactyly Glomerulonephritis Cataract Kyphoscoliosis Respiratory failure Myopathy Flexion contracture Hypertelorism Rhizomelia Aortic valve stenosis Glomerulopathy Abnormal T cell morphology Steroid-resistant nephrotic syndrome Short philtrum Aggressive behavior Anxiety Increased thyroid-stimulating hormone level Encephalomalacia Gastroesophageal reflux Prominent nasal bridge Abnormal immunoglobulin level Macrotia Autism Gait ataxia Clinodactyly of the 5th finger Patent ductus arteriosus Pectus carinatum Small for gestational age Hypospadias Right ventricular cardiomyopathy Stereotypy Dental crowding Pulmonary arterial hypertension Psychosis Prominent nose Single transverse palmar crease Tapered finger Pulmonic stenosis Arteriosclerosis Hypoplasia of the capital femoral epiphysis Mucopolysacchariduria Long face Multiple lentigines Joint hyperflexibility Depressivity Microphthalmia Aspiration Onycholysis Aortic valve calcification Nephrosclerosis Muscle fiber atrophy Hypermelanotic macule Focal segmental glomerulosclerosis Emphysema Osteolytic defects of the phalanges of the hand Spondyloepiphyseal dysplasia High anterior hairline Periodontitis Combined immunodeficiency Heart block Epiphora Psoriasiform dermatitis Hip subluxation Anterior pituitary dysgenesis Behavioral abnormality Expanded metatarsals with widened medullary cavities Gait disturbance Cleft palate Ataxia Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Aortic arch calcification Mitral valve calcification Moyamoya phenomenon Hypoplasia of the tooth germ Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Premature loss of permanent teeth Premature arteriosclerosis Anorexia Narrow face Azoospermia Scaling skin Lumbar hyperlordosis Multiple cafe-au-lait spots Nephrotic syndrome Microdontia Decreased testicular size Chronic kidney disease Lymphoma Fine hair Disproportionate short-trunk short stature Encephalitis Glomerulosclerosis Premature birth Epiphyseal dysplasia Nephritis Intellectual disability, profound Abnormal lung morphology Brain atrophy Coarse hair Protuberant abdomen Abnormality of the vasculature Hyperlipidemia Reduced bone mineral density Atherosclerosis Opacification of the corneal stroma Transient ischemic attack Abnormal form of the vertebral bodies Thoracic kyphosis Ovoid vertebral bodies Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Heterotopia Migraine Gliosis Horseshoe kidney High pitched voice Dentinogenesis imperfecta Cellular immunodeficiency Headache Immunodeficiency Renal insufficiency Kyphosis Vomiting Thrombocytopenia Fever Six lumbar vertebrae Shallow orbits Bipolar affective disorder Nasal speech Sandal gap Precocious atherosclerosis Cerebral ischemia Abnormal cerebellum morphology Corneal opacity Neutropenia Nephropathy Astigmatism B-cell lymphoma Malabsorption Platyspondyly Stroke Villous atrophy Autoimmunity Lymphoproliferative disorder Scarring Melanocytic nevus Developmental regression Dementia Steatorrhea Diarrhea Polymicrogyria Osteolysis Intellectual disability, mild Broad nasal tip Sparse hair Deeply set eye High forehead Rod-cone dystrophy Alopecia Visual impairment Short palpebral fissure Strabismus Nystagmus Abnormal isoelectric focusing of serum transferrin Butterfly vertebrae Enlarged cisterna magna Pierre-Robin sequence Delayed myelination Broad thumb Failure to thrive in infancy Low posterior hairline Fused cervical vertebrae Nemaline bodies Centrally nucleated skeletal muscle fibers Mild short stature Bilateral ptosis Frequent falls Underdeveloped nasal alae Progressive hearing impairment Webbed neck Falls Feeding difficulties Broad distal phalanx of finger Wide nasal base Broad columella Corneal dystrophy Vertebral segmentation defect Progressive microcephaly Cervical C2/C3 vertebral fusion Adducted thumb Preeclampsia Cardiorespiratory arrest Ankylosis Bilateral talipes equinovarus Congenital contracture Pterygium Joint contracture of the hand Thoracic kyphoscoliosis Decreased fetal movement Triangular face Pulmonary hypoplasia Talipes Arthrogryposis multiplex congenita Camptodactyly Polyhydramnios Ulnar deviation of the hand Abnormality of the diaphragm Microtia Elevated serum creatinine Postnatal growth retardation Wide nasal bridge Chronic tubulointerstitial nephritis Short iliac bones Pes valgus Thoracic dysplasia Metaphyseal widening Short umbilical cord Short ribs Limb undergrowth Full cheeks Short foot Narrow chest Respiratory distress Respiratory insufficiency Acetabular dysplasia Limitation of neck motion Decreased body weight Sparse eyebrow Arnold-Chiari type I malformation Syringomyelia Absent septum pellucidum Cutis marmorata Obsessive-compulsive behavior Overfolded helix Abnormality of the urinary system Arachnoid cyst Aplasia/Hypoplasia of the corpus callosum Short chin Pigmentary retinopathy Overgrowth Hip dysplasia Urinary incontinence Narrow nose Metopic synostosis Thin vermilion border Osteoporosis Cutaneous photosensitivity Cardiomegaly Generalized muscle weakness Hypoplasia of the maxilla Genu valgum Carious teeth Pes cavus Ureterocele Recurrent respiratory infections Arrhythmia Visual loss Skeletal muscle atrophy Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Vesicoureteral reflux Retinopathy Hepatomegaly Bilateral sensorineural hearing impairment Portal hypertension Polycystic kidney dysplasia Wide anterior fontanel Hepatic fibrosis Cholestasis Choanal atresia Hepatitis Enlarged kidney Sepsis Renal cyst Cirrhosis Abnormality of the liver Umbilical hernia Splenomegaly Atrial septal defect Congenital glaucoma Hiatus hernia Hydronephrosis Hypoplasia of the corpus callosum Jaundice Prominent forehead Agenesis of corpus callosum Dilatation Hypertonia Hydrocephalus Ventriculomegaly Esophageal varix Cryptorchidism Splenic cyst Pancreatic hypoplasia Pancreatic cysts Cystic renal dysplasia Sagittal craniosynostosis Buphthalmos Lateral displacement of the femoral head


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