Hypertension, and Prominent nasal bridge

Diseases related with Hypertension and Prominent nasal bridge

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


Top matches:

Medium match HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD


Related symptoms:

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: MESH OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

Medium match BARDET-BIEDL SYNDROME


Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Medium match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

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Other less relevant matches:

Medium match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY 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

Medium match HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS


Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Medium match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Medium match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Medium match CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME


Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Medium match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Top 5 symptoms//phenotypes associated to Hypertension and Prominent nasal bridge

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hypertension and Prominent nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Nystagmus Ptosis Abnormal facial shape Ataxia Generalized hypotonia Strabismus Short philtrum Failure to thrive Myopia Arthrogryposis multiplex congenita Wide nasal bridge High forehead Low-set ears Epicanthus Flexion contracture Seizures Hydrocephalus Muscular hypotonia Sensorineural hearing impairment Short stature

Rare Symptoms - Less than 30% cases


Craniofacial dysostosis Portal hypertension Arnold-Chiari malformation Neonatal asphyxia Narrow mouth Ventriculomegaly Abnormality of the eye Anemia Telecanthus Underdeveloped nasal alae Turricephaly Microcephaly Hepatomegaly Dilatation Proptosis Retrognathia Craniosynostosis Feeding difficulties Oligohydramnios Reduced subcutaneous adipose tissue Narrow nose Renal insufficiency Broad nasal tip Micrognathia Macrocephaly Breech presentation Malar flattening Short nose Abnormal autonomic nervous system physiology Micropenis Posteriorly rotated ears Low-set, posteriorly rotated ears Hypogonadism Aganglionic megacolon Intellectual disability, severe Obesity Hypertelorism Overgrowth Microcolon Cerebral dysmyelination Decreased lacrimation Spotty hyperpigmentation Peripheral hypomyelination Congenital ptosis Parietal foramina Choanal atresia Sparse lateral eyebrow Decreased skull ossification Depressed nasal tip Exostoses White eyebrow Cleft palate Multiple exostoses Cutaneous syndactyly between fingers 2 and 5 Palmoplantar keratoderma Depressed nasal bridge Small nail Aniridia Anteverted nares Respiratory distress Midface retrusion Epidermal acanthosis Agenesis of corpus callosum Macrotia Umbilical hernia Dolichocephaly Optic atrophy Cutaneous syndactyly Self-injurious behavior Postprandial hyperglycemia Brachydactyly Cataract Increased urinary sedoheptulose Absent brainstem auditory responses Abnormality of globe location Abnormal CNS myelination Hypochromic anemia Hypoplasia of the semicircular canal Subcortical cerebral atrophy Abnormality of the renal tubule Dysmyelinating leukodystrophy Hypochromic microcytic anemia Long-segment aganglionic megacolon Cholestatic liver disease Recurrent hypoglycemia Behavioral abnormality Syndactyly Nephroblastoma Single transverse palmar crease Sparse eyebrow Subcutaneous nodule Wormian bones Abnormality of the genital system Meconium ileus Prominent nose Downturned corners of mouth Brachycephaly Delayed puberty Hypoplasia of the cochlea Broad forehead Autistic behavior Myelin outfoldings Hypothyroidism Autism Abnormality of the face Acanthosis nigricans Gingival overgrowth Blue irides Abnormality of the nervous system Neonatal hypotonia Hepatosplenomegaly Hypopigmentation of hair Abnormal eyebrow morphology Abdominal pain Heterochromia iridis Abnormal pyramidal sign Myoclonus Pes cavus White hair Constipation Demyelinating peripheral neuropathy Hyporeflexia White forelock Distal muscle weakness Distal amyotrophy Areflexia Congenital nystagmus Intestinal obstruction Decreased nerve conduction velocity CNS hypomyelination Anosmia Hypopigmented skin patches Torticollis Spastic paraparesis Distal sensory impairment Leukodystrophy Hypohidrosis Spastic tetraplegia Peripheral demyelination Tetraplegia Coma Hypopigmentation of the skin Ileus Arrhythmia Abnormality of the nail Natal tooth Hypoplasia of the zygomatic bone Skin tags Abnormality of the skull Hearing abnormality Underdeveloped supraorbital ridges Anteriorly placed anus Limited elbow extension Abnormality of the pancreas Bifid scrotum Melanocytic nevus Redundant skin Reduced number of teeth Abnormality of vision Premature graying of hair Narrow palate Choanal stenosis Aplasia/Hypoplasia of the earlobes Splenomegaly Prominent scrotal raphe Peripheral neuropathy Motor delay Intestinal pseudo-obstruction Spasticity Preauricular skin furrow Palmoplantar cutis gyrata Prominent umbilicus White eyelashes Diastasis recti Visceral angiomatosis Oxycephaly Alacrima Thickened helices Cloverleaf skull Redundant neck skin Palmoplantar cutis laxa Cardiac arrest Severe postnatal growth retardation Morning glory anomaly Arachnodactyly Pes planus Gastroesophageal reflux Prominent forehead Pectus excavatum Intrauterine growth retardation Breathing dysregulation High, narrow palate Multiple renal cysts Meningocele Occipital encephalocele Molar tooth sign on MRI Tented upper lip vermilion Encephalocele Open mouth Bruising susceptibility Premature birth Dandy-Walker malformation Aortic root aneurysm Pes valgus Hyperextensibility of the finger joints Entropion Progeroid facial appearance Severe intrauterine growth retardation Scaphocephaly Aortic aneurysm Mitral valve prolapse Ectopia lentis Lipodystrophy Relative macrocephaly Cutis laxa Increased body weight Tall stature High myopia Cerebellar vermis hypoplasia Renal cyst Narrow palm Agitation Finger syndactyly Neurological speech impairment Short neck Skeletal muscle atrophy Contractures of the interphalangeal joint of the thumb Hyperconvex nail Cupped ear Postaxial hand polydactyly Status epilepticus Tapered finger Bulbous nose Tachycardia Patent ductus arteriosus Atrial septal defect Ventricular septal defect Pigmentary retinopathy Hypoplasia of penis Highly arched eyebrow Pneumonia Postaxial polydactyly Abnormality of eye movement Coloboma Irritability Deeply set eye Polydactyly Absent speech Nephrotic syndrome Microphthalmia Medial flaring of the eyebrow Hypoplasia of the ovary Abnormal electroretinogram Multicystic kidney dysplasia Generalized hirsutism Hepatic fibrosis Dural ectasia Prominent scalp veins Shallow orbits Increased serum lactate Severe muscular hypotonia Spontaneous abortion Aortic valve stenosis Renal hypoplasia Cardiomegaly Aciduria Metabolic acidosis Rocker bottom foot Lactic acidosis Pulmonic stenosis Wide mouth Camptodactyly Hypertrophic cardiomyopathy Acidosis Abnormal heart morphology Hyperammonemia Severe failure to thrive Abnormality of cardiovascular system morphology Hypotelorism Steatorrhea Hyperglycemia Adducted thumb Chronic diarrhea Large fontanelles Cholestasis Hepatitis Severe lactic acidosis Hip dysplasia Short foot Inguinal hernia Recurrent infections Immunodeficiency Diarrhea 3-Methylglutaconic aciduria Hypospadias Congestive heart failure Edema Eczema Chronic kidney disease Sparse eyelashes Sparse and thin eyebrow Hydrops fetalis Lymphedema Telangiectasia Thick vermilion border Glomerulonephritis Stage 5 chronic kidney disease Hypotrichosis Sparse hair Proteinuria Mandibular prognathia Hyperkeratosis Alopecia Pyloric stenosis Absent eyebrow Cardiomyopathy Pulmonary lymphangiectasia Respiratory insufficiency Frontal bossing Telangiectasia of extensor surfaces Facial telangiectasia in butterfly midface distribution Epidermal hyperkeratosis Choroid plexus calcification Oval face Long nose Membranoproliferative glomerulonephritis Arteriosclerosis Nonimmune hydrops fetalis Hydrocele testis Absent eyelashes Palpebral edema Freckling Spasmus nutans



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