Intrauterine growth retardation, and Cholestasis

Diseases related with Intrauterine growth retardation and Cholestasis

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Cholestasis 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

Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.

HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY Is also known as pyruvate kinase deficiency of erythrocytes|pk deficiency|pyruvate kinase deficiency of erythrocyte

Related symptoms:

  • Anemia
  • Intrauterine growth retardation
  • Fatigue
  • Edema
  • Splenomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY

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

Other less relevant matches:

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER 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

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

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

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Medium match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

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

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Anemia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Ascites Decreased liver function Generalized hypotonia Hepatic steatosis Hernia Respiratory insufficiency Hepatomegaly Low-set ears Global developmental delay Seizures Vomiting Elevated hepatic transaminase Hypoalbuminemia Jaundice Hepatic failure

Rare Symptoms - Less than 30% cases

Lactic acidosis Hepatitis Severe intrauterine growth retardation Osteopenia Ventricular septal defect Hyperbilirubinemia Diarrhea Diabetes mellitus Sepsis Long philtrum Acidosis Tachypnea Joint laxity Abnormal facial shape Pancreatic hypoplasia Splenomegaly Portal hypertension Spasticity Sensorineural hearing impairment Microcephaly Patent ductus arteriosus Hypothyroidism Epicanthus Feeding difficulties Hypoglycemia Recurrent infections Choanal atresia Hypertension Increased serum iron High palate Depressed nasal bridge Increased serum ferritin Hypocalcemia Bradykinesia Inguinal hernia Increased serum lactate Global brain atrophy Delayed myelination Metabolic acidosis Small hand Abnormal lung morphology Cough Pancytopenia Oligohydramnios Abnormality of eye movement Hypokinesia Abnormality of the eye Poor eye contact Progressive encephalopathy Increased CSF lactate Fulminant hepatic failure Basal ganglia cysts Deeply set eye Gastroesophageal reflux Abnormality of the renal tubule Cerebral atrophy Primary hypothyroidism Lymphedema Protein-losing enteropathy Cataract Hiatus hernia Thoracolumbar scoliosis Esophageal varix Buphthalmos Sagittal craniosynostosis Cystic renal dysplasia Pancreatic cysts Splenic cyst Hypertelorism Cryptorchidism Abnormal intestine morphology Brachydactyly Talipes equinovarus Short neck Thrombocytopenia Dyspnea Camptodactyly Abnormal cardiac septum morphology Pulmonary hypoplasia Decreased fetal movement Large fontanelles Enlarged kidney Congenital hypothyroidism Rickets Respiratory failure Interstitial pulmonary abnormality Bile duct proliferation Vitamin D deficiency Anasarca Vitamin A deficiency Abnormality of the skeletal system Atrial septal defect Pneumonia Glaucoma Muscular hypotonia of the trunk Congenital glaucoma Umbilical hernia Thin upper lip vermilion Abnormality of the kidney Hyperlordosis Craniosynostosis Renal cyst Bilateral sensorineural hearing impairment Hepatic fibrosis Wide anterior fontanel Polycystic kidney dysplasia Small scrotum Microtia Encephalopathy Aminoaciduria Abnormal erythrocyte morphology Increased red cell osmotic fragility Compensated hemolytic anemia Elevated transferrin saturation Reduced red cell pyruvate kinase activity Neonatal hypotonia Aciduria Increased serum pyruvate Congenital hemolytic anemia Renal Fanconi syndrome Elevated hepatic iron concentration Chronic lactic acidosis Decreased transferrin saturation Malabsorption Intestinal malrotation Gastrointestinal hemorrhage Hyperglycemia Abnormality of the amniotic fluid Unconjugated hyperbilirubinemia Anteriorly placed anus Hydrops fetalis Abnormality of the coagulation cascade Conjugated hyperbilirubinemia Microvesicular hepatic steatosis Fatigue Edema Pallor Lethargy Hemolytic anemia Cholelithiasis Chronic hemolytic anemia Prolonged neonatal jaundice Reticulocytosis Thrombocytosis Nonimmune hydrops fetalis Anisocytosis Poikilocytosis Cholecystitis Nonspherocytic hemolytic anemia Tracheoesophageal fistula Iron deficiency anemia Hypertonia Broad neck Midface retrusion Posteriorly rotated ears Conductive hearing impairment Congenital diaphragmatic hernia Atresia of the external auditory canal Ectopic kidney Macrocytic anemia Increased mean corpuscular volume Respiratory distress Cleft soft palate Reticulocytopenia Mandibulofacial dysostosis Nystagmus Motor delay Hyperreflexia Hypoplasia of the corpus callosum Cardiomyopathy Malar flattening Cleft palate Ketoacidosis Acholic stools Maternal diabetes Duodenal atresia Intestinal atresia Biliary atresia Meckel diverticulum Absent gallbladder Annular pancreas Diabetic ketoacidosis Jejunal atresia Micrognathia Intellectual disability Hydronephrosis Postnatal growth retardation Full cheeks Round face CNS hypomyelination Hyperextensible skin Short stature Abnormal isoelectric focusing of serum transferrin


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