Intrauterine growth retardation, and Polymicrogyria

Diseases related with Intrauterine growth retardation and Polymicrogyria

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

Top matches:

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

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

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

Other less relevant matches:

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, 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:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Medium match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Polymicrogyria

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Polymicrogyria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Micrognathia Pachygyria High palate Abnormal facial shape Hypoplasia of the corpus callosum Scoliosis Hypertelorism Short stature Feeding difficulties Cerebellar hypoplasia Visual impairment Intellectual disability, severe Wide nasal bridge Tetraparesis Cerebellar atrophy Lissencephaly Failure to thrive Flexion contracture Muscular hypotonia Short nose Muscular hypotonia of the trunk Respiratory distress Absent speech Tetraplegia Spastic tetraplegia Nystagmus Spastic tetraparesis Acidosis

Rare Symptoms - Less than 30% cases

Renal dysplasia Renal cyst Low-set ears Abnormal corpus callosum morphology Oligohydramnios Respiratory insufficiency Frontoparietal polymicrogyria Short neck Abnormal pyramidal sign Motor delay Large fontanelles Dandy-Walker malformation Anteverted nares Cerebral atrophy Narrow mouth Stage 5 chronic kidney disease Optic atrophy Cryptorchidism Inguinal hernia Enlarged kidney Pulmonary hypoplasia Heterotopia Delayed speech and language development Encephalopathy Respiratory failure Leukodystrophy Opisthotonus Developmental regression Severe intrauterine growth retardation Lactic acidosis Hepatic failure Metabolic acidosis Hepatomegaly Long philtrum Cortical dysplasia Hypertonia Intellectual disability, moderate Sloping forehead Arthrogryposis multiplex congenita Short thorax Vertebral segmentation defect Multiple glomerular cysts Ureteral atresia Thoracic hypoplasia Severe postnatal growth retardation Depressed nasal bridge Pancreatic dysplasia Cleft palate Small nail Epicanthus Hammertoe Talipes equinovarus Glutaric acidemia Depressed nasal ridge Abnormality of the ribs Webbed neck Short sternum Pancreatic fibrosis Polycystic kidney dysplasia Postaxial polydactyly Intestinal malrotation Cholestasis Clitoral hypoplasia Upper limb spasticity Hepatic fibrosis Aortic valve stenosis Situs inversus totalis Spontaneous abortion Type I diabetes mellitus Preauricular pit Potter facies Polysplenia Asplenia Abnormal localization of kidney Biliary cirrhosis Retinal coloboma Bile duct proliferation Tracheomalacia Pancreatic cysts Hepatic cysts Portal fibrosis Protuberant abdomen Missing ribs Multiple renal cysts Scrotal hypoplasia Cerebral cortical atrophy Cirrhosis Decreased muscle mass Spastic diplegia Macrotia Deeply set eye Hydronephrosis Low-set, posteriorly rotated ears Joint stiffness Short philtrum Congenital cataract Delayed puberty Brachycephaly Hirsutism Microcornea Aplasia/Hypoplasia of the corpus callosum Generalized hirsutism Low anterior hairline Cerebral visual impairment Abnormal cerebellum morphology Abnormality of retinal pigmentation Decreased testicular size Hypoplasia of penis Cerebellar vermis hypoplasia Glaucoma Hypogonadism Bell-shaped thorax Abnormality of visual evoked potentials Myelomeningocele Postnatal microcephaly Hypoplastic fingernail Disproportionate short-trunk short stature Cystic renal dysplasia Enlarged thorax Increased nuchal translucency Narrow pelvis bone Abnormal vertebral segmentation and fusion Absent or minimally ossified vertebral bodies Nephroblastomatosis Unossified vertebral bodies Microphthalmia Nephrogenic rest Abnormal liver lobulation Lumbosacral meningocele Absent in utero rib ossification Unossified sacrum Absent in utero ossification of vertebral bodies Intralobar nephroblastomatosis Cataract Ptosis Peripheral neuropathy Kyphosis Cerebellar vermis atrophy Micropenis Midface retrusion Abnormality of the kidney Unilateral renal agenesis Focal segmental glomerulosclerosis Minimal change glomerulonephritis Hearing impairment Dysarthria Hypospadias Agenesis of corpus callosum Severe short stature EEG abnormality Craniosynostosis Poor speech Mild short stature Nephrotic syndrome Multiple joint contractures Ectopic kidney Severe failure to thrive Cardiorespiratory arrest Duodenal atresia Abnormality of the spinal cord Gray matter heterotopias Short corpus callosum Cognitive impairment Ventriculomegaly Edema Glomerulosclerosis Narrow forehead Recurrent infections Hyperreflexia Small hand Akinesia Fetal akinesia sequence Perisylvian polymicrogyria Neonatal hypotonia Premature birth Increased serum lactate Hyperammonemia Progressive encephalopathy Abnormality of brain morphology Hyperactivity Esotropia Aggressive behavior Decreased fetal movement Thick lower lip vermilion Hemiparesis Impulsivity Cortical gyral simplification Maternal diabetes Schizencephaly Proteinuria Dysmetria Arachnodactyly Myopathy Polyhydramnios Jaundice Growth abnormality Hip dislocation Carious teeth Confusion Joint hypermobility Flat face High myopia Wide anterior fontanel Congenital hip dislocation Cutis laxa Coarse hair Redundant skin Feeding difficulties in infancy Prominent supraorbital ridges Brittle hair Lipodystrophy Oxycephaly Abnormal isoelectric focusing of serum transferrin Atrial septal defect Renal insufficiency Patent ductus arteriosus Abnormal heart morphology Diabetes mellitus Polydactyly Postnatal growth retardation Pes planus Retrognathia Loss of speech Irritability Abnormality of the cerebral white matter Brain atrophy Wide intermamillary distance Severe muscular hypotonia Leukoencephalopathy Abnormality of mitochondrial metabolism Hypoplasia of the brainstem Agitation Episodic fever Pendular nystagmus Hernia Severe lactic acidosis Primitive reflex Psychomotor deterioration Diffuse leukoencephalopathy Progressive leukoencephalopathy Strabismus Myopia Downslanted palpebral fissures Frontal bossing Abnormality of the skeletal system Malar flattening Hypoplastic labia minora


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