Hypertension, and Low-set, posteriorly rotated ears

Diseases related with Hypertension and Low-set, posteriorly rotated ears

In the following list you will find some of the most common rare diseases related to Hypertension and Low-set, posteriorly rotated ears that can help you solving undiagnosed cases.

Top matches:

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

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

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

Other less relevant matches:

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

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

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

Medium match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Top 5 symptoms//phenotypes associated to Hypertension and Low-set, posteriorly rotated ears

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertension and Low-set, posteriorly rotated ears. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Short neck Abnormal facial shape Posteriorly rotated ears Failure to thrive Hypertelorism Microcephaly Epicanthus Low-set ears Macrotia Long philtrum Abnormality of cardiovascular system morphology Downslanted palpebral fissures Cleft palate Prominent nasal bridge Muscular hypotonia Micrognathia Growth delay Sparse hair Aplasia/Hypoplasia of the abdominal wall musculature Broad forehead Portal hypertension Polyhydramnios Brachydactyly Constipation Gingival overgrowth Craniosynostosis Proptosis Hearing impairment Optic atrophy Motor delay Splenomegaly Ptosis Dilatation High forehead Bilateral single transverse palmar creases Hepatomegaly Generalized hypotonia Respiratory distress Scoliosis Wide nasal bridge Failure to thrive in infancy

Rare Symptoms - Less than 30% cases

Midface retrusion Neoplasm Agenesis of corpus callosum Joint hypermobility Flexion contracture Umbilical hernia Convex nasal ridge Overgrowth Abnormal form of the vertebral bodies Seizures Syndactyly Malar flattening Abnormality of the skeletal system Redundant skin Clinodactyly Abnormal heart morphology Clinodactyly of the 5th finger Brachycephaly Multicystic kidney dysplasia Postaxial hand polydactyly Finger syndactyly Toe syndactyly Skeletal muscle atrophy Broad thumb Narrow palate Abnormality of the skull Limited elbow extension Horseshoe kidney Lymphoma Pectus carinatum Joint laxity Prominent forehead Pectus excavatum Thrombocytopenia Fine hair Cognitive impairment Delayed skeletal maturation Micromelia Abnormal hair pattern Sacral dimple Aganglionic megacolon Hyperlordosis Narrow chest Anal stenosis Trigonocephaly Abnormality of pelvic girdle bone morphology Pneumonia B-cell lymphoma Diarrhea Myopathy Craniofacial dysostosis Oxycephaly Abnormality of the pancreas Leukemia Cardiomyopathy Cleft lip Depressed nasal ridge Respiratory insufficiency Coxa valga Hepatic fibrosis Myopia Visual impairment Delayed speech and language development Sensorineural hearing impairment Hypoplasia of the ear cartilage Alopecia Renal hypoplasia/aplasia Abnormality of the liver Hepatosplenomegaly Hypersplenism Congestive heart failure Atrial septal defect Ventricular septal defect Short nose Nystagmus Microtia Upslanted palpebral fissure Postnatal growth retardation Narrow mouth Thin upper lip vermilion Smooth philtrum Rhizomelia Intellectual disability, moderate Talipes equinovarus High palate Hirsutism Duplication of the distal phalanx of hand Premature closure of fontanelles Skull asymmetry Metaphyseal dysostosis Non-Hodgkin lymphoma Deviated nasal septum Hip dislocation Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Flat forehead Abnormal nasolacrimal system morphology Parietal foramina Postaxial polydactyly Congenital adrenal hyperplasia Proximal radio-ulnar synostosis Narrow vertebral interpedicular distance Prominent crus of helix Intrauterine growth retardation Neonatal hypotonia Polydactyly Talipes Abnormally ossified vertebrae Abnormal bone ossification Patent ductus arteriosus Intellectual disability, severe Hypoplastic anemia Abnormal T cell morphology Long fibula Cleft of chin Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Oral cleft Abnormality of the distal phalanx of finger Partial duplication of the distal phalanx of the 3rd finger Wide mouth Thin vermilion border Renotubular dysgenesis Neoplasm of the breast Macrocytic anemia Lacrimal duct stenosis Amblyopia Breast carcinoma Abnormality of humoral immunity Abnormality of the genitourinary system Increased intracranial pressure Sleep apnea Cutaneous syndactyly Plagiocephaly Elbow flexion contracture Low anterior hairline Hypotelorism Radioulnar synostosis Absent pubertal growth spurt Dental malocclusion Migraine Hypoplasia of the maxilla Single transverse palmar crease Flat face Flaring of lower rib cage Susceptibility to chickenpox Facial asymmetry Protruding ear Biconvex vertebral bodies Severe T-cell immunodeficiency Lambdoidal craniosynostosis Bilateral cleft lip Anterior plagiocephaly Buphthalmos Impaired lymphocyte transformation with phytohemagglutinin Bilateral cleft lip and palate Adrenal hyperplasia Blepharospasm Abnormality of the antihelix Short columella Limitation of joint mobility Coronal craniosynostosis Shallow orbits Triphalangeal thumb Narrow nose External ear malformation Abnormality of digit Vertebral fusion Long nose Delayed cranial suture closure Broad hallux Hallux valgus Open bite Epiphora Sparse facial hair Abnormality of the genital system Short metacarpal Abnormality of the ribs Sparse and thin eyebrow Abnormality of retinal pigmentation Abnormality of epiphysis morphology Heart block Bronchiectasis Bowing of the long bones Abnormality of the metaphysis Blue sclerae Lumbar hyperlordosis Fair hair Tracheal stenosis Overweight Decreased antibody level in blood Gastrointestinal hemorrhage Postural instability Hypopigmentation of the skin Neutropenia Small hand Generalized joint laxity Short palm Joint hyperflexibility Malabsorption Aplastic anemia Upper limb undergrowth Lymphopenia Aplasia/Hypoplasia affecting the eye Cone-shaped epiphysis High hypermetropia Abnormality of the hip bone Hodgkin lymphoma Tibial bowing Basal cell carcinoma Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Hypoplasia of the odontoid process Esophageal atresia Metaphyseal widening Short ribs Genu varum Distal arthrogryposis Disproportionate short-limb short stature Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Exocrine pancreatic insufficiency Thrombocytosis Arthrogryposis multiplex congenita Abnormal cardiac septum morphology Limb undergrowth Clitoral hypertrophy Abnormality of the helix Postaxial foot polydactyly Large face Spinal dysraphism Ulnar deviation of finger Abnormality of immune system physiology Dislocated radial head Biparietal narrowing Multiple joint contractures Radial deviation of finger Congenital hypoplastic anemia Medulloblastoma Hand polydactyly Neonatal short-limb short stature Aplasia/Hypoplasia of the corpus callosum Cutis laxa Short chin Joint dislocation Metaphyseal dysplasia Omphalocele Intellectual disability, profound Congenital diaphragmatic hernia Tetralogy of Fallot Normocytic anemia Broad alveolar ridges Carcinoma Midline facial capillary hemangioma EEG abnormality Skeletal dysplasia Metaphyseal chondrodysplasia Severe short stature Recurrent infections Immunodeficiency Anemia Cellular immunodeficiency Fused sternal ossification centers Metaphyseal cupping Thick anterior alveolar ridges Right-to-left shunt Mucopolysacchariduria Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Metopic synostosis Abnormality of the anus Abnormality of chromosome stability Accessory oral frenulum Bronchiolitis Diaphyseal thickening Abnormal diaphysis morphology Hypotrichosis Wide intermamillary distance Telecanthus Hydrocephalus Acanthosis nigricans Abnormality of the nail Subcutaneous nodule Abnormality of the face Choanal atresia Small nail Epidermal acanthosis Palmoplantar keratoderma Dolichocephaly Abnormality of the eye Ventriculomegaly Abnormality of vision Medial flaring of the eyebrow Hypoplasia of the ovary Abnormal electroretinogram Generalized hirsutism Nephrotic syndrome Hypoplasia of penis Pigmentary retinopathy Neurological speech impairment Hypogonadism Obesity Arnold-Chiari malformation Reduced number of teeth Wide nasal base Cloverleaf skull Fever Peripheral neuropathy Pain Preauricular skin furrow Palmoplantar cutis gyrata Prominent scrotal raphe Prominent umbilicus Palmoplantar cutis laxa Visceral angiomatosis Thickened helices Redundant neck skin Melanocytic nevus Aplasia/Hypoplasia of the earlobes Breech presentation Choanal stenosis Hypoplasia of the zygomatic bone Skin tags Hearing abnormality Turricephaly Underdeveloped supraorbital ridges Anteriorly placed anus Natal tooth Bifid scrotum Broad distal phalanx of finger Broad columella Vomiting Stage 5 chronic kidney disease Multiple renal cysts Enlarged kidney Polycystic kidney dysplasia Chronic kidney disease Abnormal lung morphology Cholestasis Oligohydramnios Dehydration Renal cyst Pulmonary hypoplasia Scarring Atelectasis Abnormality of the kidney Respiratory failure Renal insufficiency Abnormal isoelectric focusing of serum transferrin Butterfly vertebrae Enlarged cisterna magna Pierre-Robin sequence Vertebral segmentation defect Progressive microcephaly Osteopenia Kyphoscoliosis Chronic lung disease Esophageal varix Congenital hypothyroidism Intellectual disability, mild Corneal dystrophy Progressive hearing impairment Short palpebral fissure Delayed myelination Broad nasal tip Deeply set eye Hypothyroidism Glaucoma Diabetes mellitus Rod-cone dystrophy Cerebellar atrophy Cholangitis Absence of renal corticomedullary differentiation Azotemia Periportal fibrosis Potter facies Hematemesis Portal fibrosis Biliary tract abnormality Tubulointerstitial fibrosis Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Dysphagia Abdominal pain Conductive hearing impairment Lymphedema Pleural effusion Bilateral ptosis Cholelithiasis Poor suck Deep philtrum Bicuspid aortic valve Torticollis Vasculitis Aortic valve stenosis Hydrops fetalis Cafe-au-lait spot Cubitus valgus Hyperpigmentation of the skin Mitral regurgitation Low posterior hairline Epistaxis Cyanosis Hip dysplasia Esotropia Webbed neck Abnormal bleeding Triangular face Abnormality of the thorax Overfolded helix Highly arched eyebrow Pulmonary lymphangiectasia Mandibular prognathia Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Monocytosis Proximal placement of thumb Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Ascites Thick vermilion border Weight loss Hypoalbuminemia Volvulus Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Hydroureter Anonychia Malnutrition Intestinal obstruction External ophthalmoplegia Abdominal situs inversus Pancreatitis Recurrent urinary tract infections Interphalangeal joint contracture of finger Intestinal malrotation Round face Vesicoureteral reflux Abdominal distention Arachnodactyly Ophthalmoplegia Joint stiffness Hydronephrosis Peritonitis Intestinal pseudo-obstruction Bruising susceptibility Gait disturbance Falls Astigmatism Abnormality of the foot Pulmonic stenosis Hypermetropia Feeding difficulties in infancy Gastroesophageal reflux Inguinal hernia Edema Frontal bossing Macrocephaly Urinary retention Feeding difficulties Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Urethral obstruction Megacystis Prune belly Microcolon Pollakisuria Pulmonary lymphoma


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Progressive neurologic deterioration, related diseases and genetic alterations Depressed nasal bridge and Smooth philtrum, related diseases and genetic alterations Nystagmus and Tetralogy of Fallot, related diseases and genetic alterations Sensorineural hearing impairment and Agenesis of corpus callosum, related diseases and genetic alterations Anemia and Thin skin, related diseases and genetic alterations Myopia and Colitis, related diseases and genetic alterations