Micrognathia, and EEG abnormality

Diseases related with Micrognathia and EEG abnormality

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

Top matches:

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.

CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME Is also known as asparagine synthetase deficiency|asns deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Low match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Other less relevant matches:

Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

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

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and EEG abnormality

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Macrotia Hypsarrhythmia Cerebellar hypoplasia Malar flattening Hypoplasia of the corpus callosum Encephalopathy Macrocephaly Feeding difficulties Spasticity Growth delay Neurological speech impairment Low-set ears Midface retrusion Wide nasal bridge Cleft palate Visual impairment Protruding ear Strabismus Severe muscular hypotonia Muscle weakness Absent speech Muscular hypotonia Optic atrophy Spastic tetraplegia Cerebral cortical atrophy Hyperreflexia Cerebral visual impairment Respiratory insufficiency Hypertonia Cortical dysplasia Blindness

Rare Symptoms - Less than 30% cases

Highly arched eyebrow Intellectual disability, severe Bilateral single transverse palmar creases Sparse and thin eyebrow Gait disturbance Cataract Progressive hypotrichosis Abnormality of the philtrum Cutaneous syndactyly of toes Myoclonus Facial hypotonia Abnormality of dental enamel Postnatal microcephaly Tetraplegia Elevated serum creatine phosphokinase Scoliosis Palmoplantar hyperkeratosis Severe global developmental delay Cerebral atrophy Dystonia Sparse eyelashes Pili torti Anteverted ears Hypohidrosis Hyperlordosis Cleft upper lip Synophrys Carious teeth Hypodontia Ectodermal dysplasia Nail dysplasia Toe syndactyly Abnormality of the ear Wide intermamillary distance Finger syndactyly Microdontia Sparse hair Cerebellar atrophy Oral cleft Cleft lip Hypogonadism Abnormality of the ureter Recurrent respiratory infections Abnormality of dental morphology Syndactyly Abnormality of the dentition Downslanted palpebral fissures Bilateral cleft lip and palate Anodontia Dystrophic toenail Sparse lateral eyebrow Dystrophic fingernails Cutaneous finger syndactyly CNS hypomyelination Scrotal hypoplasia Hydrocephalus Full cheeks Microretrognathia Brachycephaly Agenesis of corpus callosum Flexion contracture Myopia Lissencephaly Delayed speech and language development Pterygium High palate Nystagmus Hypertelorism Skeletal muscle atrophy Arthrogryposis multiplex congenita Dilation of lateral ventricles Dilatation Anteverted nares Muscular hypotonia of the trunk Delayed myelination Sloping forehead Progressive microcephaly Cortical gyral simplification Hypoplasia of the pons Hypoplasia of the brainstem Anhidrosis Genu valgum Hypotrichosis Paraplegia Scaling skin Small hand Parkinsonism Spastic paraplegia Abnormality of extrapyramidal motor function Apraxia Hypoplasia of the zygomatic bone Drooling Psychosis Bruxism Brittle hair Mania Progressive spastic paraparesis Excessive salivation Slender build Aplasia/Hypoplasia of the eyebrow Shuffling gait Macroorchidism Choreoathetosis Poor coordination Restlessness Progressive spasticity Spastic paraparesis Paraparesis Spastic gait Bilateral cleft lip Clumsiness Cognitive impairment Uncontrolled eye movements Abnormal pyramidal sign Buphthalmos Congenital muscular dystrophy Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Congenital glaucoma Retinal atrophy Megalocornea Meningocele Kyphosis Retinal dysplasia Undetectable electroretinogram Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the voice Intellectual disability, mild Short neck Cerebellar dysplasia Tremor Type II lissencephaly Cerebellar cyst Hypoglycosylation of alpha-dystroglycan Ataxia Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Babinski sign Optic nerve hypoplasia Myopathy Everted lower lip vermilion Glaucoma Neonatal hypotonia Pallor Coloboma Muscular dystrophy Abnormality of the cerebral white matter Congenital cataract Abnormality of movement Retinal degeneration Polymicrogyria Generalized muscle weakness Infantile muscular hypotonia High myopia Intellectual disability, profound Gait ataxia Pes cavus Encephalocele Pachygyria EMG abnormality Opacification of the corneal stroma Holoprosencephaly Pneumonia Aplasia/Hypoplasia of the corpus callosum Microphthalmia Stridor Abnormal dermatoglyphics Hearing impairment Dandy-Walker malformation Cerebral calcification Decreased fetal movement Akinesia Cystic hygroma Fetal akinesia sequence Hydranencephaly Limb joint contracture Multiple pterygia Severe hydrocephalus Edema Polyhydramnios Abdominal distention Leukodystrophy Tented upper lip vermilion Peripheral edema Constipation Upslanted palpebral fissure Developmental regression Neurodegeneration Gliosis Neuronal loss in central nervous system Premature birth Abnormality of metabolism/homeostasis Fasciculations Clinodactyly of the 5th finger Failure to thrive Large hands Progressive encephalopathy Long foot Profound global developmental delay Exaggerated startle response Short stature Epicanthus Abnormality of cardiovascular system morphology Obesity Autism Intrauterine growth retardation Autistic behavior Prominent nasal bridge Bulbous nose Short palm Short foot Tapered finger Round face Polyphagia Narrow nose Misalignment of teeth Progressive neurologic deterioration Widely spaced teeth Sparse scalp hair Narrow naris Aortic regurgitation Shock Focal impaired awareness seizure Turricephaly Increased CSF protein Delayed CNS myelination Periventricular leukomalacia Episodic vomiting Generalized tonic seizures Inspiratory stridor Infantile encephalopathy Involuntary movements Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Multifocal cerebral white matter abnormalities Alopecia Hyperhidrosis Abnormality of the kidney Nail dystrophy Triangular face Absence seizures Epileptic encephalopathy Sparse eyebrow Prominent forehead Atrophy/Degeneration affecting the brainstem Chronic constipation Diffuse cerebral atrophy Tongue fasciculations Abnormal facial shape Frontal bossing Respiratory distress Cardiomyopathy Vomiting Behavioral abnormality Hyperactivity Focal-onset seizure Mandibular prognathia Skeletal dysplasia Coarse facial features Apnea Irritability Dolichocephaly Lethargy Flat face Broad nasal tip Aciduria Juvenile cataract


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Generalized seizures, related diseases and genetic alterations Hepatomegaly and Finger syndactyly, related diseases and genetic alterations Congestive heart failure and High, narrow palate, related diseases and genetic alterations Micrognathia and Delayed myelination, related diseases and genetic alterations