Depressed nasal bridge, and Encephalitis

Diseases related with Depressed nasal bridge and Encephalitis

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


Top matches:

High match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

High match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

High match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


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

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Other less relevant matches:

High match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

High match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Medium match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Low match HEREDITARY OROTIC ACIDURIA


Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4


Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Low match MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9


MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Pain
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Encephalitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Encephalitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Recurrent respiratory infections Short stature Scoliosis Growth delay Low-set ears Short neck Congestive heart failure Generalized hypotonia Cleft palate Wide nasal bridge Meningitis Gastroesophageal reflux Hyperlordosis Cerebral cortical atrophy Spondyloepiphyseal dysplasia Premature birth Vomiting Pneumonia Recurrent infections Immunodeficiency Microcephaly Abnormality of the kidney Micrognathia Inguinal hernia Flexion contracture Anteverted nares Talipes equinovarus Muscular hypotonia Spasticity Hyperreflexia Downslanted palpebral fissures Midface retrusion Hypospadias Motor delay Failure to thrive Cardiomyopathy Cryptorchidism Frontal bossing Kyphosis

Rare Symptoms - Less than 30% cases


Hyperactivity Genu valgum Ventricular septal defect Tented upper lip vermilion Drooling Intellectual disability, progressive Decreased testicular size Thick eyebrow Microtia Malar flattening Abnormality of the foot Wide mouth Delayed skeletal maturation Constipation Pes planus Kyphoscoliosis Posteriorly rotated ears Thin upper lip vermilion Neutropenia Anemia Generalized tonic-clonic seizures Proptosis Brachycephaly Respiratory distress Pain Atonic seizures Generalized myoclonic seizures Autistic behavior Narrow chest Encephalopathy Respiratory failure Macrocephaly Flat face Aciduria Flat occiput Respiratory tract infection Talipes Hypertension Hip dislocation Fever Intrauterine growth retardation Cerebellar atrophy Abnormality of the dentition Multiple joint dislocation Osteopenia 11 pairs of ribs Short metacarpal Microdontia Lumbar hyperlordosis Abnormal lung morphology Joint dislocation Rhizomelia Otitis media Short nose Microretrognathia Mandibular prognathia Hepatomegaly Macrotia Abnormality of the skeletal system Abnormality of epiphysis morphology Tremor Corneal opacity Optic atrophy Splenomegaly Severe short stature Cardiomegaly Gingival overgrowth Hypertrophic cardiomyopathy Coarse facial features Dementia Abnormal form of the vertebral bodies Abnormality of the skin Skeletal dysplasia Weight loss Macroglossia Intellectual disability, severe Hearing impairment Developmental regression Ptosis Abdominal distention Long philtrum Ataxia Epicanthus Brachydactyly Camptodactyly of finger Agammaglobulinemia Inability to walk Decreased antibody level in blood Nausea Encephalocele Poor speech Anxiety Deeply set eye Limb undergrowth Deep palmar crease Recurrent urinary tract infections Hyperkinesis Clubbing Oral-pharyngeal dysphagia Elbow dislocation Folate-unresponsive megaloblastic anemia Short metatarsal Orotic acid crystalluria Disproportionate short-limb short stature Reduced orotidine 5-prime phosphate decarboxylase activity Pyrimidine-responsive megaloblastic anemia Abnormality of the outer ear Absence seizures Muscle stiffness Aspiration Sinusitis Recurrent pneumonia Gait disturbance Polyhydramnios Dysphagia EEG abnormality High forehead Myoclonus Submucous cleft hard palate Cerebral atrophy Behavioral abnormality Hypoplasia of the corpus callosum Heparan sulfate excretion in urine Mental deterioration Abnormal pulmonary valve morphology Gastroparesis Abnormality of the acetabulum Hyperalaninemia Foot pain 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Aggressive behavior Recurrent otitis media Autism Atypical absence seizures Abdominal pain Depressivity Progressive spasticity Delayed speech and language development Feeding difficulties EEG with focal sharp slow waves CNS infection Frontotemporal cerebral atrophy Personality disorder Bifid uvula Abnormality of brainstem morphology Generalized tonic seizures Enlarged cisterna magna Abnormality of the periventricular white matter Relative macrocephaly Epileptic encephalopathy Focal-onset seizure Falls Tibial bowing Short femur Short humerus Bicuspid aortic valve Thoracic hypoplasia Atrial septal defect Bilateral talipes equinovarus Metatarsus adductus Radioulnar synostosis Patent ductus arteriosus Patent foramen ovale Hyperextensible skin Cutis laxa Metacarpophalangeal joint hyperextensibility Sandal gap Accelerated skeletal maturation Elbow flexion contracture Lymphedema Low-set, posteriorly rotated ears Hyperammonemia Abnormality of the liver Left ventricular hypertrophy Bilateral elbow dislocations Congenital glaucoma Hematuria Talipes equinovalgus Small face Endocardial fibroelastosis Generalized osteoporosis Abnormality of the abdominal wall Lumbar scoliosis Overlapping fingers Abnormally large globe Knee dislocation Upper limb undergrowth Restrictive ventilatory defect Shoulder dislocation Hypertropia Accessory carpal bones Enlarged metaphyses Aortic root aneurysm Prominent antitragus Spatulate thumbs Broad distal phalanges of all fingers Narrow nasal bridge Mitral regurgitation Blue sclerae Oroticaciduria Aplasia/Hypoplasia of the ulna Multinucleated giant chondrocytes in epiphyseal cartilage Anisocytosis Club-shaped proximal femur Thoracic platyspondyly Megaloblastic anemia Poikilocytosis Impaired T cell function Laryngeal stenosis Long clavicles Abnormality of the ureter Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae Radial bowing Bell-shaped thorax Loss of speech Abnormal toenail morphology Aminoaciduria Low posterior hairline Pectus carinatum Congenital diaphragmatic hernia Mitral valve prolapse Webbed neck Esotropia Recurrent fractures Arachnodactyly Pulmonic stenosis Hypermetropia Abnormal cardiac septum morphology Distal tapering femur Joint laxity Narrow mouth Glaucoma Osteoporosis Prominent forehead Abnormal heart morphology Hernia Hydrocephalus Hip dysplasia Amblyopia Protuberant abdomen Aplasia/Hypoplasia of the corpus callosum Thick lower lip vermilion Scrotal hypoplasia Infantile muscular hypotonia Widely spaced teeth Increased body weight Narrow face Exotropia Abnormality of the genital system Open mouth Renal hypoplasia Bilateral cryptorchidism Narrow forehead Vesicoureteral reflux Tapered finger Thick vermilion border Paraplegia Nail dystrophy Spastic paraplegia Dolichocephaly Telecanthus Radial deviation of finger Mild short stature Hypogonadism Widely-spaced maxillary central incisors Myopia Cognitive impairment Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Talipes calcaneovalgus External genital hypoplasia Bilateral renal hypoplasia U-Shaped upper lip vermilion Short upper lip Lower limb hypertonia Asplenia Facial hypotonia Protruding tongue Abnormality of blood and blood-forming tissues Slender finger Micropenis Upslanted palpebral fissure Renal insufficiency Abnormality of movement Bundle branch block Abnormality of the urinary system Generalized hirsutism Abnormality of the metaphysis Hypertrichosis Depressed nasal ridge Broad nasal tip Neurodegeneration Dilated cardiomyopathy Generalized dystonia Joint stiffness Hepatosplenomegaly Arthralgia Dystonia Blindness Skeletal muscle atrophy Muscle weakness Strabismus Nystagmus Abnormal heart valve morphology Beaking of vertebral bodies Clinodactyly Abnormality of the scrotum Obesity Hypertonia High palate Sensorineural hearing impairment Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Cerebral degeneration Thickened ribs Angiokeratoma corporis diffusum Dysostosis multiplex Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Psychomotor deterioration Abnormal diaphysis morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Diarrhea Headache Leukoencephalopathy Right ventricular cardiomyopathy Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Cellular immunodeficiency Abnormal immunoglobulin level Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Abnormal T cell morphology Moyamoya phenomenon Transient ischemic attack Intellectual disability, moderate Intention tremor Pulmonary arterial hypertension Interphalangeal joint contracture of finger Oligohydramnios Increased serum lactate Lactic acidosis Small for gestational age Short philtrum Neonatal hypotonia Premature arteriosclerosis Umbilical hernia Retrognathia Acidosis Arrhythmia Respiratory insufficiency Cataract Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Thoracic kyphosis Abnormality of the vasculature Thrombocytopenia Bulbous nose Nephrotic syndrome Waddling gait Lymphoma Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Nephropathy Abnormality of skin pigmentation Fine hair Stage 5 chronic kidney disease Astigmatism Malabsorption Platyspondyly Stroke Autoimmunity Scarring Proteinuria Hypothyroidism Intellectual disability, profound Heterotopia Glomerulopathy Glomerulonephritis Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Epiphyseal dysplasia Lymphopenia Glomerulosclerosis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Keratan sulfate excretion in urine



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