Feeding difficulties, and Polymicrogyria

Diseases related with Feeding difficulties and Polymicrogyria

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


Top matches:

Medium match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C


SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C Is also known as mocod type c|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62

Medium match SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY


Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

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Other less relevant matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30 Is also known as coxpd30

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Feeding difficulties
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30

Medium match LISSENCEPHALY 3; LIS3


Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27


Early infantile epileptic encephalopathy-27 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).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, 27; EIEE27

Medium match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6


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' (Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Medium match PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Medium match PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

Top 5 symptoms//phenotypes associated to Feeding difficulties and Polymicrogyria

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Feeding difficulties and Polymicrogyria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar hypoplasia Muscular hypotonia of the trunk Failure to thrive Spasticity Hypoplasia of the corpus callosum Cerebral atrophy Absent speech Cerebral visual impairment

Rare Symptoms - Less than 30% cases


Lissencephaly Intellectual disability, severe Heterotopia Flat occiput Encephalopathy Respiratory failure Gastroesophageal reflux Hypsarrhythmia Intellectual disability, profound Cataract Dilatation Ventriculomegaly Jaundice High forehead Hepatomegaly Abnormality of neuronal migration Spastic tetraplegia Severe muscular hypotonia Hypoplasia of the pons Hyperreflexia Hypertonia Micrognathia Epileptic encephalopathy Poor eye contact Visual impairment Blindness Growth delay Abnormality of the cerebral white matter Arachnodactyly Optic atrophy Muscular dystrophy Elevated serum creatine phosphokinase Areflexia Tapered finger Hydrocephalus Short stature Hypertelorism Myopia Nephrotic syndrome Proteinuria Flexion contracture Abnormal facial shape Diffuse mesangial sclerosis Focal segmental glomerulosclerosis Stage 5 chronic kidney disease Delayed speech and language development Glomerulosclerosis Macrotia Dandy-Walker malformation Cholestasis Congenital muscular dystrophy Delayed closure of the anterior fontanelle Cardiorespiratory arrest Epiphyseal stippling Bilateral talipes equinovarus Flat face Talipes Posteriorly rotated ears Long philtrum Talipes equinovarus High palate Low-set ears Nystagmus Abnormality of the nasal bridge Neonatal hyperbilirubinemia Dicarboxylic aciduria Posterior embryotoxon Retinal dysplasia Abnormality of the eye Type II lissencephaly Cerebellar cyst Diffuse white matter abnormalities Frontoparietal polymicrogyria Wide nasal bridge Abnormality of the nervous system Dolichocephaly Central hypotonia Triangular face Aciduria Cyanosis Chorea Large fontanelles Hyperbilirubinemia Mild microcephaly Pachygyria Generalized myoclonic seizures Vomiting Congenital encephalopathy Abnormal muscle tone Central hypoventilation Hypoventilation Intellectual disability, progressive Progressive microcephaly Postnatal microcephaly Feeding difficulties in infancy Apnea Rigidity EEG abnormality Myoclonus Constipation Respiratory insufficiency Acidosis Spastic tetraparesis Tetraparesis Inability to walk Dysphagia Sulfite oxidase deficiency Molybdenum cofactor deficiency Increased urinary taurine Hypouricemia Opisthotonus Poor head control Spontaneous abortion Generalized-onset seizure Generalized tonic-clonic seizures Hearing impairment Elevated hepatic transaminase Dyskinesia Focal-onset seizure Autistic behavior Autism Dystonia Atrial septal defect Agyria Esodeviation Congenital microcephaly Hemianopia Cerebellar dysplasia Cortical dysplasia Hypoplasia of the brainstem Hemiparesis Cerebellar vermis hypoplasia Tetraplegia Abnormality of the liver Abnormal pyramidal sign Agenesis of corpus callosum Intellectual disability, mild Motor delay Strabismus Ataxia Hyperalaninemia Increased CSF lactate Ragged-red muscle fibers Decreased liver function Left ventricular hypertrophy Ventricular hypertrophy Increased serum lactate Lactic acidosis Generalized neonatal hypotonia



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