Abnormal facial shape, and Polymicrogyria

Diseases related with Abnormal facial shape and Polymicrogyria

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


Top matches:

Low match CHUDLEY-MCCULLOUGH SYNDROME


Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

Low match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Low match MENTAL RETARDATION, X-LINKED 103; MRX103


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

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Other less relevant matches:

Low match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Low match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Low match PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A


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 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Low 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

Low 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

Low match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2


Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Polymicrogyria

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

Patients with Abnormal facial shape and Polymicrogyria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypoplasia of the corpus callosum Lissencephaly Cerebellar hypoplasia Ventriculomegaly Absent speech Micrognathia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Ataxia Sloping forehead Cortical gyral simplification Intrauterine growth retardation Anteverted nares Dysarthria Hypertelorism Depressed nasal bridge Feeding difficulties Wide nasal bridge Intellectual disability, moderate Apraxia Hyperactivity Intellectual disability, severe Hypertonia Pachygyria Hyperreflexia Partial agenesis of the corpus callosum Cortical dysplasia High forehead Cognitive impairment Hepatomegaly Macrocephaly Agenesis of corpus callosum Perisylvian polymicrogyria Triangular face Large fontanelles Hemiparesis Growth delay Intellectual disability, mild Spasticity Macrotia Cerebral atrophy Visual impairment Failure to thrive Proteinuria Fetal akinesia sequence Wide anterior fontanel Short stature Large face Severe failure to thrive Multiple renal cysts CNS hypomyelination Apnea Renal cyst Infantile muscular hypotonia Severe muscular hypotonia Severe intrauterine growth retardation Decreased liver function Elevated hepatic transaminase Muscular hypotonia of the trunk Arachnodactyly Central hypotonia Abnormal corpus callosum morphology Maternal diabetes Impulsivity Spastic tetraparesis Tetraparesis Thick lower lip vermilion Decreased fetal movement Aggressive behavior Long philtrum Abnormality of the nasal bridge Neonatal hyperbilirubinemia Dicarboxylic aciduria Delayed closure of the anterior fontanelle Posterior embryotoxon Abnormality of neuronal migration Stage 5 chronic kidney disease Abnormality of the nervous system Tapered finger Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Diffuse mesangial sclerosis Jaundice Spastic tetraplegia Flat occiput Abnormality of the eye Dolichocephaly Aciduria Cyanosis Cholestasis Hyperbilirubinemia Akinesia Epileptic encephalopathy Tetraplegia Motor delay Abnormal cerebellum morphology Postaxial polydactyly Polydactyly Frontal bossing Nystagmus Short palm Wide mouth Coarse facial features Micropenis Cryptorchidism Dilation of lateral ventricles Limb hypertonia Severe global developmental delay Large foramen magnum Tall stature Gray matter heterotopias Dysplastic corpus callosum Prelingual sensorineural hearing impairment Cerebellar dysplasia Colpocephaly Arachnoid cyst Severe sensorineural hearing impairment Congenital sensorineural hearing impairment Bilateral sensorineural hearing impairment Dilatation Hydrocephalus Sensorineural hearing impairment Hearing impairment Cerebellar vermis hypoplasia Oculomotor apraxia Small hand Febrile seizures Arthrogryposis multiplex congenita Continuous spike and waves during slow sleep EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Speech apraxia Epileptic spasms Aphasia Dysphasia Language impairment Dysdiadochokinesis Status epilepticus Generalized-onset seizure Focal-onset seizure Large for gestational age Urinary incontinence Progressive cerebellar ataxia Generalized myoclonic seizures Neurological speech impairment Attention deficit hyperactivity disorder Autistic behavior Developmental regression EEG abnormality Autism Encephalopathy Behavioral abnormality Elongated superior cerebellar peduncle Molar tooth sign on MRI Schizencephaly



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