Micrognathia, and Delayed myelination

Diseases related with Micrognathia and Delayed myelination

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

Top matches:

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

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

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

Other less relevant matches:

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

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

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

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

Top 5 symptoms//phenotypes associated to Micrognathia and Delayed myelination

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Feeding difficulties Hypertonia Gliosis Encephalopathy Depressed nasal bridge Hyperreflexia Spasticity Absent speech Cortical gyral simplification Cerebral cortical atrophy Macrotia Upslanted palpebral fissure Apnea Abnormal facial shape Optic atrophy Cerebellar hypoplasia Progressive microcephaly Cerebral visual impairment Dystonia Hypsarrhythmia Epileptic encephalopathy Muscular hypotonia of the trunk Cerebellar atrophy Cerebral atrophy Myoclonus Behavioral abnormality Downslanted palpebral fissures Neuronal loss in central nervous system Muscle weakness

Rare Symptoms - Less than 30% cases

Severe muscular hypotonia Respiratory insufficiency Blindness Esotropia Spastic tetraplegia Broad forehead Respiratory distress Fasciculations Cortical dysplasia Cryptorchidism Hypoplasia of the pons Low-set ears Strabismus Hypertelorism Uplifted earlobe Scoliosis Growth delay Dilation of lateral ventricles Thin upper lip vermilion Failure to thrive Visual impairment Flexion contracture Intrauterine growth retardation Irritability Arthrogryposis multiplex congenita Brain atrophy Sloping forehead Sparse eyebrow Profound global developmental delay Wide nasal bridge Malar flattening Cognitive impairment Epicanthus Developmental regression Chorea Focal-onset seizure High palate Status epilepticus Abnormality of the cerebral white matter Infantile encephalopathy Generalized tonic seizures Anteverted ears Narrow naris Inspiratory stridor Glutaric aciduria Cardiogenic shock Episodic vomiting Aortic regurgitation Periventricular leukomalacia Broad nasal tip Skeletal dysplasia Coarse facial features Protruding ear Dolichocephaly Lethargy Flat face Aciduria Delayed CNS myelination Involuntary movements Absence seizures Shock Focal impaired awareness seizure Stridor Turricephaly Increased CSF protein Subependymal cysts Microphallus D-2-hydroxyglutaric aciduria Abnormal autonomic nervous system physiology Dry skin Thin vermilion border Generalized myoclonic seizures Round face Narrow forehead Bradycardia Clonus Abnormality of mitochondrial metabolism EEG abnormality Global brain atrophy Dysphasia Muscle fibrillation Mild microcephaly Limb joint contracture Myoclonic spasms Multifocal seizures Rigidity Babinski sign Multifocal cerebral white matter abnormalities Oculomotor apraxia Nystagmus Hypogonadism Micropenis Spastic paraplegia Nevus Ambiguous genitalia Hypergonadotropic hypogonadism Prominent supraorbital ridges Olivopontocerebellar hypoplasia Clitoral hypertrophy Hypoplasia of the brainstem Flat occiput Nevus flammeus Thick upper lip vermilion Sex reversal Hyperactivity Mandibular prognathia Waddling gait Brachycephaly Large hands Abnormality of the skeletal system Tremor Delayed speech and language development Ptosis Retrocerebellar cyst Snoring Obstructive sleep apnea Tracheomalacia Laryngomalacia Sleep apnea Ataxia Exaggerated startle response Long foot Progressive encephalopathy Limb hypertonia Posteriorly rotated ears Small cerebral cortex Cataract Prominent nasal bridge Small for gestational age Severe global developmental delay Abnormal cerebellum morphology Choanal atresia Abnormality of the cerebrum Hemiparesis Abnormality of the cerebral cortex Abnormal neuron morphology Generalized tonic-clonic seizures Smooth philtrum Inability to walk Febrile seizures Abnormality of the dentition Hypothyroidism Prominent forehead Progressive neurologic deterioration Vomiting Cardiomyopathy Anteverted nares Frontal bossing Macrocephaly Muscular hypotonia Tongue fasciculations Diffuse cerebral atrophy Chronic constipation Facial hypotonia Atrophy/Degeneration affecting the brainstem CNS hypomyelination Widely spaced teeth Postnatal microcephaly Tetraplegia Anxiety Long fingers Joint laxity Abnormality of the pinna Craniosynostosis Facial asymmetry Thick lower lip vermilion Pointed chin Esophageal atresia Neurodegeneration Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Skeletal muscle atrophy Elevated serum creatine phosphokinase Constipation Hypoplasia of the frontal lobes


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