Intrauterine growth retardation, and Hepatic steatosis

Diseases related with Intrauterine growth retardation and Hepatic steatosis

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

Top matches:

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Jaundice
  • Hypoglycemia


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15

Medium match GRACILE SYNDROME

GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).

GRACILE SYNDROME Is also known as growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|lactic acidosis, finnish, with hepatic hemosiderosis|fellman syndrome

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Intrauterine growth retardation
  • Acidosis
  • Neonatal hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GRACILE SYNDROME

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Other less relevant matches:

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as scad deficiency|scadh deficiency|acads deficiency|lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency|scadd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Medium match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Hepatic steatosis

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Elevated hepatic transaminase Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cholestasis

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Abnormality of the liver

Uncommon Symptoms - Between 30% and 50% cases

Cirrhosis Microcephaly Intellectual disability Vomiting Feeding difficulties Motor delay Cerebral atrophy Aciduria Hypoglycemia Acidosis Spasticity Muscle weakness Anemia Neonatal hypotonia Optic atrophy Ataxia Hepatomegaly Cerebellar atrophy Microvesicular hepatic steatosis Hearing impairment Focal-onset seizure Decreased liver function Lactic acidosis Hepatic failure

Rare Symptoms - Less than 30% cases

Pancytopenia Abnormality of the eye Decreased plasma carnitine Diarrhea Feeding difficulties in infancy Lethargy Hypoglycemic encephalopathy Recurrent infections Bile duct proliferation Encephalopathy Scoliosis Hyperkeratosis Generalized-onset seizure Abnormality of movement Generalized tonic-clonic seizures Short stature Micronodular cirrhosis Hip dysplasia Retrognathia Cerebral cortical atrophy Muscular hypotonia Decreased fetal movement Hyperactivity 3-Methylglutaconic aciduria Hypertonia Myopathy Delayed speech and language development Cataract Peripheral neuropathy Ethylmalonic aciduria Postnatal growth retardation Prolonged QT interval Jaundice Ascites Dilated cardiomyopathy Cardiomyopathy Hepatitis Congestive heart failure Hypoalbuminemia Joint laxity CNS hypomyelination Hyperbilirubinemia Hepatic fibrosis Spastic paraparesis Clumsiness Cerebral visual impairment Paraparesis Choreoathetosis Progressive neurologic deterioration Encephalitis Intellectual disability, progressive Abnormality of vision Slurred speech Akinesia Spastic diplegia Progressive spasticity Celiac disease Abnormality of visual evoked potentials Progressive encephalopathy Increased CSF protein Severe failure to thrive Fetal akinesia sequence Tics Hemiparesis Microcytic anemia Status epilepticus Dementia Macrovesicular hepatic steatosis Gastrointestinal inflammation Abnormal T cell morphology Type II transferrin isoform profile Micrognathia Fever Dysphagia Blindness Visual loss Areflexia Pneumonia Myoclonus Neuronal loss in central nervous system Respiratory failure Rigidity Developmental regression Paralysis Peripheral axonal neuropathy Neurodegeneration Coma Gliosis Brain atrophy Increased serum lactate Gastrointestinal dysmotility Epileptic encephalopathy Memory impairment Multifocal seizures Astrocytosis Athetosis Inability to walk Muscle cramps Chorea Waddling gait Apraxia Lower limb spasticity Truncal ataxia Scapular winging Infantile muscular hypotonia Limb-girdle muscular dystrophy Gowers sign Impulsivity Adrenal insufficiency Poor speech Restrictive ventilatory defect Progressive proximal muscle weakness Esophagitis Achalasia Speech apraxia Recurrent ear infections Muscle fiber atrophy Alacrima Right ventricular dilatation Intellectual disability, borderline Abnormal levels of creatine kinase in blood Cerebral white matter atrophy Unsteady gait Carious teeth Gastric ulcer Fatigue Chronic hepatitis Impaired T cell function Cerebral degeneration Phonic tics Epilepsia partialis continua Cerebral cortical neurodegeneration Strabismus Pain Dysarthria Myopia Tremor Gait disturbance Dystonia Congenital cataract Absent speech Hyporeflexia Elevated serum creatine phosphokinase Constipation Brachycephaly Difficulty walking EEG abnormality Proximal muscle weakness Myalgia Hyperlordosis Attention deficit hyperactivity disorder Muscular dystrophy Abnormality of the coagulation cascade Loss of consciousness Proximal tubulopathy Osteopenia Arrhythmia Increased circulating free fatty acid level Abnormality of acetylcarnitine metabolism Increased C-peptide level High palate Hypospadias Hypertension Respiratory insufficiency Hernia Inguinal hernia Gastroesophageal reflux Deeply set eye Hepatic necrosis Cryptorchidism Cough Abnormality of eye movement Oligohydramnios Hyperextensible skin Abnormal lung morphology Hypocalcemia Tachypnea Portal hypertension Rickets Interstitial pulmonary abnormality Vitamin D deficiency Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Fasting hyperinsulinemia Vitamin A deficiency Decreased testicular size Hypokinesia Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Abnormality of the genital system Mitral regurgitation Hypertrophic cardiomyopathy Sudden cardiac death Dicarboxylic aciduria Confusion Pigmentary retinopathy Hyperammonemia Mildly elevated creatine phosphokinase Proportionate short stature Myoglobinuria Neonatal hypoglycemia Acute hepatic failure Hyperinsulinemic hypoglycemia Hypoketotic hypoglycemia Prolonged prothrombin time Hypoglycemic seizures Anasarca Small scrotum Abnormal cortical gyration Arthrogryposis multiplex congenita Thrombocytopenia Hyperhidrosis Increased serum ferritin Polydactyly Severe intrauterine growth retardation Polyhydramnios Aminoaciduria Hepatosplenomegaly Aggressive behavior Muscular hypotonia of the trunk Abnormal cardiac septum morphology Malabsorption Increased serum pyruvate Postaxial polydactyly Abnormal bleeding Decreased antibody level in blood Conjugated hyperbilirubinemia Chronic diarrhea Hypohidrosis Lymphopenia Abnormal intestine morphology Inflammation of the large intestine Perineal hypospadias Combined immunodeficiency Neurodevelopmental delay Immunodeficiency Hypoplasia of the corpus callosum Round face Metabolic acidosis Full cheeks Ptosis Flexion contracture Respiratory distress Hydronephrosis Sensorineural hearing impairment Decreased transferrin saturation Chronic lactic acidosis Facial palsy Respiratory tract infection Abnormality of the cerebral white matter Ophthalmoplegia Elevated hepatic iron concentration Ventriculomegaly Psychosis External ophthalmoplegia Progressive external ophthalmoplegia Organic aciduria U-Shaped upper lip vermilion Nonketotic hypoglycemia Episodic metabolic acidosis Increased serum iron Abnormal facial shape Epicanthus Renal Fanconi syndrome Talipes equinovarus Exophoria


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