Micrognathia, and Epileptic encephalopathy

Diseases related with Micrognathia and Epileptic encephalopathy

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


Top matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

High match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

High match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH


Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

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Other less relevant matches:

High match LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME


Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).

LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME Is also known as lethal neonatal rigidity-multifocal seizure syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME

High match ALG13-CDG


ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

High match ALPERS-HUTTENLOCHER SYNDROME


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

High match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

High match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

High match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Epileptic encephalopathy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Delayed myelination Hypertelorism Cerebral atrophy Spasticity Visual impairment Cerebral visual impairment Hypsarrhythmia Hypertonia Absent speech Malar flattening Long philtrum Anteverted nares Hyperreflexia High palate Ventriculomegaly Cerebral cortical atrophy Muscular hypotonia of the trunk Myoclonus Strabismus Depressed nasal bridge Growth delay Coarse facial features Hearing impairment Short stature EEG abnormality Short nose Hypoplasia of the corpus callosum Low-set ears Muscular hypotonia Upslanted palpebral fissure Cerebellar atrophy Developmental regression Focal-onset seizure Cerebellar hypoplasia Optic atrophy Hypermetropia Brain atrophy Clinodactyly Abnormality of the eye Retrognathia Scoliosis Flexion contracture Delayed speech and language development Nystagmus Micropenis Cleft palate Hepatomegaly Autism Decreased body weight Motor delay Infantile spasms Intellectual disability, severe Neuronal loss in central nervous system Ataxia Gliosis Frontal bossing Wide nasal bridge Status epilepticus Apnea Mandibular prognathia Hyperactivity Brachycephaly Muscle weakness Generalized tonic-clonic seizures Behavioral abnormality Vomiting Macrotia Macrocephaly Epicanthus Cognitive impairment

Rare Symptoms - Less than 30% cases


Short chin Abnormality of brain morphology Self-mutilation Posteriorly rotated ears Poor head control Synophrys Narrow mouth Clumsiness Sleep disturbance Patent ductus arteriosus Hydrocephalus Neonatal hypotonia Large fontanelles Multifocal seizures Mild microcephaly Dysphasia Absent septum pellucidum Epileptic spasms Global brain atrophy Deeply set eye Narrow palpebral fissure Small hand Polyphagia Obesity Generalized-onset seizure Generalized myoclonic seizures Wide mouth Short foot Aggressive behavior Gastroesophageal reflux Constipation Clinodactyly of the 5th finger Hip dysplasia Myopia Cryptorchidism Gastric ulcer Micronodular cirrhosis Abnormality of vision Hepatic failure Failure to thrive Cirrhosis Abnormality of the liver Hypoplasia of penis Stereotypy Respiratory failure Pneumonia Generalized hirsutism Widely spaced teeth Infantile muscular hypotonia Dysphagia Self-injurious behavior Fever Downturned corners of mouth Atrial septal defect Microtia Feeding difficulties in infancy Periventricular leukomalacia Coloboma Progressive microcephaly Aciduria Prominent forehead Postnatal microcephaly Optic disc pallor Broad nasal tip Postnatal growth retardation Dystonia Febrile seizures Short neck Hemiparesis Sensorineural hearing impairment Protruding ear Cardiomyopathy Anteverted ears Thin upper lip vermilion Blindness Focal impaired awareness seizure Absence seizures Downslanted palpebral fissures Increased CSF protein Rigidity Dilation of lateral ventricles Inability to walk Delayed CNS myelination Hypercholesterolemia Patent foramen ovale Tetraparesis Ventricular hypertrophy Interphalangeal joint contracture of finger Failure to thrive in infancy Abnormality of the ribs Coarctation of aorta Tetralogy of Fallot Abnormal blistering of the skin Abnormality of the skin Pyloric stenosis Hypertrichosis Depressed nasal ridge Sacral dimple Abnormal intestine morphology Spastic tetraparesis Leukoencephalopathy Bicuspid aortic valve Pointed chin Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Cranial nerve paralysis Short phalanx of finger Delayed gross motor development Telangiectasia Heterotopia Pachygyria Mitral regurgitation Wide anterior fontanel Thin vermilion border Intestinal malrotation Myopathy Pes cavus Agenesis of corpus callosum Delayed skeletal maturation Hypospadias Abnormality of cardiovascular system morphology Midface retrusion Kyphosis Ventricular septal defect Hypothyroidism Abnormality of the skeletal system Gait disturbance Brachydactyly Cataract Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Hypogonadism Conductive hearing impairment Bifid uvula Small for gestational age Renal cyst Hepatic steatosis Polymicrogyria Oral cleft Hand polydactyly Poor speech Abnormality of the cerebral white matter Dilated cardiomyopathy Neurological speech impairment Hydronephrosis Camptodactyly of finger Abnormal cardiac septum morphology Blepharophimosis Joint stiffness Abnormality of the pinna Camptodactyly Abnormality of the kidney Low-set, posteriorly rotated ears Cleft upper lip Hypermelanotic macule Clitoral hypertrophy Hypoplastic labia minora Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Talipes valgus Abnormal external genitalia Horizontal eyebrow Muscle flaccidity Hypoplastic female external genitalia Annular pancreas Aortic arch aneurysm Expressive language delay Abnormality of the optic disc Abnormality of the anus Abnormality of the mandible Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormality of the hairline Bifid ribs Cavum septum pellucidum Agenesis of the anterior commissure Abnormality of finger Oculomotor apraxia Low posterior hairline Apraxia Hirsutism Dysmetria Sparse hair Syndactyly Solitary renal cyst Ebstein anomaly of the tricuspid valve Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Abnormal corpus callosum morphology Abnormality of chromosome stability Congenital sensorineural hearing impairment Neuroblastoma Overweight Abnormal lung lobation Foot polydactyly Spinal canal stenosis Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Slender long bone Hiatus hernia Telangiectasia of the skin Abnormality of the immune system Abnormal heart valve morphology High hypermetropia Macule Duplicated collecting system Delayed cranial suture closure Metatarsus adductus Hemiplegia/hemiparesis Arnold-Chiari type I malformation Abnormal eyebrow morphology Biliary tract abnormality Redundant neck skin Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Left ventricular noncompaction Volvulus Coronal craniosynostosis Abnormality of the testis 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Triangular mouth Scaling skin Hemoglobinuria Infantile encephalopathy Progressive neurologic deterioration Hepatitis Narrow naris Memory impairment Increased serum lactate Coma Neurodegeneration Lactic acidosis Cholestasis Peripheral axonal neuropathy Abnormality of movement Glutaric aciduria Paralysis Cardiogenic shock Elevated hepatic transaminase Jaundice Subependymal cysts Choreoathetosis Hepatic fibrosis D-2-hydroxyglutaric aciduria Celiac disease Astrocytosis Gastrointestinal dysmotility Tics Fetal akinesia sequence Severe failure to thrive Progressive encephalopathy Abnormality of visual evoked potentials Progressive spasticity Decreased liver function Spastic diplegia Akinesia Encephalitis Slurred speech Inspiratory stridor Intellectual disability, progressive Spastic paraparesis Paraparesis Acidosis Dementia 3-Methylglutaconic aciduria Oval face Abnormally large globe Overlapping fingers Uplifted earlobe Hypoplasia of the frontal lobes Dilated fourth ventricle Myoclonic spasms Limb joint contracture Muscle fibrillation Recurrent infections Macrogyria Abnormality of mitochondrial metabolism Abnormal autonomic nervous system physiology Clonus Bradycardia Narrow forehead Babinski sign Round face Optic nerve hypoplasia Plagiocephaly Multifocal cerebral white matter abnormalities Type I transferrin isoform profile Areflexia Visual loss Intrauterine growth retardation Pain Peripheral neuropathy Intellectual disability, moderate Abnormality of lateral ventricle Pallor Abnormal pyramidal sign Poor eye contact Adducted thumb Prominent nasal bridge Microretrognathia Horizontal nystagmus Abnormality of extrapyramidal motor function Abnormal bleeding Hypohidrosis Bile duct proliferation Microvesicular hepatic steatosis Seborrheic dermatitis Short distal phalanx of finger Overgrowth Microdontia Webbed neck Vesicoureteral reflux Sepsis Hemolytic anemia Wide nose Ichthyosis Small nail Abnormality of eye movement Stroke Polyhydramnios Limb hypertonia Respiratory insufficiency Respiratory distress Anemia Abnormality of lower lip Limb undergrowth Inflammatory abnormality of the skin Hemifacial hypoplasia Prominent occiput Breech presentation Developmental stagnation High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Smooth philtrum Central hypotonia Large for gestational age Chorea Overfolded helix Dry skin Redundant skin Elevated alkaline phosphatase Deep philtrum Multicystic kidney dysplasia Gingival overgrowth Tall stature Paroxysmal bursts of laughter Macrodontia Generalized tonic seizures Gait ataxia Involuntary movements Broad forehead Severe muscular hypotonia Aortic regurgitation Autistic behavior Shock Stridor Turricephaly Astigmatism Ptosis Cerebral cortical neurodegeneration Ethylmalonic aciduria Epilepsia partialis continua Phonic tics Cerebral degeneration Chronic hepatitis Episodic vomiting Facial asymmetry Bulbous nose Short attention span Dolichocephaly Cupped ear Language impairment Tented upper lip vermilion Skeletal dysplasia Irritability Sandal gap Finger clinodactyly Low anterior hairline Dental crowding Thick eyebrow Open mouth Lethargy Flat face Esotropia Prominent nose Highly arched eyebrow Everted lower lip vermilion Short palm Thick hair



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