Micrognathia, and Encephalitis

Diseases related with Micrognathia and Encephalitis

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

Top matches:

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

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

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

Other less relevant matches:

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

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

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked|ighd iii|fleisher syndrome|agammaglobulinemia and isolated growth hormone deficiency, x-linked|growth hormone deficiency with hypogammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Diarrhea
  • Immunodeficiency
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3

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

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

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

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Top 5 symptoms//phenotypes associated to Micrognathia and Encephalitis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Micrognathia and Encephalitis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Pneumonia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Low-set ears Abnormal facial shape Generalized hypotonia Growth delay Recurrent respiratory infections Meningitis Depressed nasal bridge Ataxia Hearing impairment Short neck Failure to thrive Muscular hypotonia Microcephaly Cryptorchidism Immunodeficiency Diarrhea Recurrent infections Skeletal dysplasia Hyperreflexia Hyperlordosis Cleft palate Hepatitis Wide nasal bridge Scoliosis Anteverted nares Abnormality of the skeletal system Flexion contracture Midface retrusion Cerebral cortical atrophy Inguinal hernia Hypospadias Rhizomelia Congestive heart failure Severe short stature Frontal bossing Talipes equinovarus Abnormality of movement Delayed skeletal maturation Vomiting Respiratory failure Optic atrophy Fever Hepatomegaly Kyphoscoliosis Recurrent bacterial infections Sinusitis

Rare Symptoms - Less than 30% cases

Long philtrum Hypertrophic cardiomyopathy Joint stiffness Abnormality of the foot Genu valgum Paraplegia Thick eyebrow Mandibular prognathia Macroglossia Arthritis Cardiomyopathy Drooling Dystonia Microtia Recurrent otitis media Tremor Fatigue Spastic paraplegia Camptodactyly of finger Abnormality of the kidney Coarse facial features Short nose Recurrent enteroviral infections Abnormal lung morphology Hyperkinesis Brachydactyly Constipation Epicanthus Gastroesophageal reflux High palate 11 pairs of ribs Wide mouth Flat occiput Pes planus Microretrognathia Spondyloepiphyseal dysplasia Premature birth Flat face Restrictive ventilatory defect Multiple joint dislocation Malar flattening Macrotia Weight loss Arthralgia Rigidity Proptosis Brachycephaly Aciduria Increased serum lactate Neurodegeneration Decreased antibody level in blood Respiratory distress Lactic acidosis Recurrent urinary tract infections Generalized tonic-clonic seizures Developmental regression Conjunctivitis Chronic otitis media Respiratory tract infection Retrognathia Acidosis Hyperactivity Myoclonus Dementia Encephalopathy Hypertonia Cerebellar atrophy Blindness Dysphagia Intrauterine growth retardation Motor delay Feeding difficulties Choreoathetosis Recurrent sinusitis Talipes Lumbar hyperlordosis Intellectual disability, progressive Short metacarpal Spastic diplegia Progressive spasticity 3-Methylglutaconic aciduria Abdominal distention Cerebral degeneration Joint dislocation Narrow chest Cardiomegaly Recurrent pneumonia Delayed speech and language development Macrocephaly Gait disturbance Abnormality of the outer ear Club-shaped proximal femur Thoracic platyspondyly Multinucleated giant chondrocytes in epiphyseal cartilage Autistic behavior Disproportionate short-limb short stature External ear malformation Bronchitis Cellulitis Osteomyelitis Recurrent skin infections Bronchiectasis Chronic diarrhea Dehydration Short metatarsal Sepsis Neutropenia Malabsorption Cough Skin rash Pain Distal tapering femur Absence seizures Encephalocele Laryngeal stenosis Coronal cleft vertebrae Atonic seizures Clubbing Short humerus Loss of speech Anxiety Bell-shaped thorax Radial bowing Short femur Deeply set eye Fused cervical vertebrae Polyhydramnios Lethal skeletal dysplasia Poor speech Autism Muscle stiffness Abdominal pain Elbow dislocation Nausea Inability to walk Generalized myoclonic seizures Otitis media Oral-pharyngeal dysphagia Limb undergrowth Intestinal pseudo-obstruction Fibular aplasia Long clavicles Aplasia/Hypoplasia of the ulna Tibial bowing Aspiration Depressivity Left ventricular hypertrophy Agammaglobulinemia Anemia Tetraplegia Hemolytic anemia Lymphadenopathy Micromelia Abnormality of the cerebral white matter Platyspondyly Autoimmunity Hypothyroidism Thrombocytopenia Intellectual disability, mild Bilateral elbow dislocations Spastic tetraplegia Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Talipes equinovalgus Knee dislocation Cerebral calcification Purpura Abnormality of the abdominal wall Barrel-shaped chest Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Cellular immunodeficiency Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Narrow nose Systemic lupus erythematosus Irregular vertebral endplates Vitiligo Autoimmune thrombocytopenia Autoimmune hemolytic anemia Basal ganglia calcification Scleroderma Hypermelanotic macule Combined immunodeficiency Metaphyseal irregularity Rheumatoid arthritis Nephritis Lumbar scoliosis Endocardial fibroelastosis Verrucae Osteopenia Webbed neck Esotropia Recurrent fractures Arachnodactyly Pulmonic stenosis Hypermetropia Hip dislocation Pectus carinatum Abnormal cardiac septum morphology Joint laxity Narrow mouth Mitral valve prolapse Glaucoma Osteoporosis Prominent forehead Abnormal heart morphology Hernia Hydrocephalus Ventricular septal defect Downslanted palpebral fissures Crohn's disease B lymphocytopenia Microdontia Congenital diaphragmatic hernia Deep palmar crease Metatarsus adductus Small face Generalized osteoporosis Overlapping fingers Abnormally large globe Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Radioulnar synostosis Low posterior hairline Patent foramen ovale Hyperextensible skin Bicuspid aortic valve Cutis laxa Sandal gap Accelerated skeletal maturation Elbow flexion contracture Lymphedema Amblyopia Mitral regurgitation Blue sclerae Enteroviral hepatitis Splenomegaly Enteroviral dermatomyositis syndrome Neonatal hypotonia Leukoencephalopathy Intention tremor Pulmonary arterial hypertension Interphalangeal joint contracture of finger Oligohydramnios Small for gestational age Short philtrum Intellectual disability, moderate Umbilical hernia Hyperammonemia Arrhythmia Respiratory insufficiency Hypertension Cataract Cerebral cortical neurodegeneration Ethylmalonic aciduria Epilepsia partialis continua Phonic tics Multifocal seizures Aplasia/Hypoplasia of the corpus callosum Abnormal aortic valve morphology Gastric ulcer Hypogonadism Decreased testicular size Vesicoureteral reflux Tapered finger Thick vermilion border Nail dystrophy Dolichocephaly Telecanthus Thin upper lip vermilion Micropenis Upslanted palpebral fissure Moderate global developmental delay Posteriorly rotated ears Clinodactyly Obesity Intellectual disability, severe Ptosis Sensorineural hearing impairment Abnormal pulmonary valve morphology Gastroparesis Hyperalaninemia Chronic hepatitis Micronodular cirrhosis Renal hypoplasia Cirrhosis Neuronal loss in central nervous system Epileptic encephalopathy Memory impairment Focal-onset seizure Brain atrophy Gliosis Coma Hepatic failure Peripheral axonal neuropathy Status epilepticus Abnormality of the liver Paralysis Abnormality of the eye Elevated hepatic transaminase Jaundice Areflexia Visual loss Cerebral atrophy Peripheral neuropathy Generalized-onset seizure Hemiparesis Microvesicular hepatic steatosis Celiac disease Bile duct proliferation Astrocytosis Gastrointestinal dysmotility Tics Fetal akinesia sequence Severe failure to thrive Increased CSF protein Progressive encephalopathy Abnormality of visual evoked potentials Akinesia Progressive neurologic deterioration Slurred speech Abnormality of vision Spastic paraparesis Paraparesis Cerebral visual impairment Decreased liver function Hepatic fibrosis Clumsiness Cholestasis Narrow forehead Thick lower lip vermilion Prostatitis Depressed nasal ridge Bundle branch block Abnormality of the urinary system Generalized hirsutism Gingival overgrowth Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Hypertrichosis Abnormality of the skin Generalized dystonia Broad nasal tip Dilated cardiomyopathy Corneal opacity Hepatosplenomegaly Kyphosis Skeletal muscle atrophy Muscle weakness Strabismus Nystagmus Abnormal heart valve morphology Beaking of vertebral bodies Paroxysmal choreoathetosis Abnormality of the scrotum Epididymitis Septic arthritis Panhypogammaglobulinemia Pyoderma Recurrent sinopulmonary infections Growth hormone deficiency Abnormality of ganglioside metabolism Decreased beta-galactosidase activity 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 Staring gaze Kernicterus Open mouth Mild short stature 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 External genital hypoplasia Bilateral cryptorchidism Talipes calcaneovalgus Radial deviation of finger Tented upper lip vermilion Scrotal hypoplasia Infantile muscular hypotonia Widely spaced teeth Increased body weight Narrow face Exotropia Abnormality of the genital system Bilateral renal hypoplasia Widely-spaced maxillary central incisors Paroxysmal dystonia Generalized muscle weakness Paroxysmal dyskinesia Facial grimacing Myokymia Episodic ataxia Trismus Torticollis Involuntary movements Migraine Chorea Dyskinesia Equinovarus deformity Neurological speech impairment Dyspnea Headache Dysarthria Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Hypopigmented skin patches on arms


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