Intrauterine growth retardation, and Jaundice

Diseases related with Intrauterine growth retardation and Jaundice

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

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

Other less relevant matches:

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

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

Medium match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

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

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

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

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Generalized hypotonia Micrognathia Seizures Cirrhosis Hepatic failure Areflexia Muscular hypotonia Anemia Abnormal heart morphology Splenomegaly Cholestasis Ascites Acidosis Developmental regression Short stature Respiratory insufficiency Abnormality of the liver Hepatic fibrosis Large fontanelles Low-set ears Edema Cleft palate Elevated hepatic transaminase Hepatosplenomegaly

Rare Symptoms - Less than 30% cases

Paralysis Thrombocytopenia Myoclonus Dementia Pneumonia Polycystic kidney dysplasia Dysphagia Cognitive impairment Spasticity Ataxia Clitoral hypertrophy Generalized tonic-clonic seizures Cataract Abnormality of movement Camptodactyly Opacification of the corneal stroma Abnormality of the helix Pigmentary retinopathy Optic nerve dysplasia Renal cortical microcysts Brushfield spots Intrahepatic biliary dysgenesis Stippled chondral calcification Single transverse palmar crease Flexion contracture Clumsiness Renal cyst Progressive neurologic deterioration High forehead Talipes equinovarus Metatarsus adductus Oligohydramnios Neuronal loss in central nervous system Cryptorchidism Polymicrogyria Palpebral edema Neurodegeneration Epicanthus Cubitus valgus Bile duct proliferation Blindness Ventricular septal defect Prolonged neonatal jaundice Hernia Patent ductus arteriosus Microcephaly Hearing impairment Microtia Nonimmune hydrops fetalis Aciduria Cerebellar atrophy Cerebral atrophy Microvesicular hepatic steatosis Poor suck Hypoalbuminemia Intellectual disability, progressive Increased serum iron Abnormality of the amniotic fluid Thrombocytosis Hemiparesis Choreoathetosis Status epilepticus Generalized-onset seizure Hepatitis Feeding difficulties in infancy Flat face Cerebral visual impairment Epileptic encephalopathy Memory impairment Focal-onset seizure Increased serum lactate Round face Brain atrophy Gliosis Coma Lactic acidosis Peripheral axonal neuropathy Decreased liver function Cerebral cortical neurodegeneration Paraparesis Spastic diplegia Severe failure to thrive Increased CSF protein Progressive encephalopathy Abnormality of visual evoked potentials Celiac disease Progressive spasticity Tics Gastrointestinal dysmotility Astrocytosis 3-Methylglutaconic aciduria Micronodular cirrhosis Spastic paraparesis Akinesia Encephalitis Gastric ulcer Chronic hepatitis Multifocal seizures Slurred speech Cerebral degeneration Phonic tics Epilepsia partialis continua Ethylmalonic aciduria Abnormality of vision Fetal akinesia sequence Polyhydramnios Epiphyseal stippling Abnormality of the pancreas Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Villous atrophy Hypergalactosemia Large forehead Woolly hair Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Secretory diarrhea Hypermethioninemia Recurrent upper respiratory tract infections Apnea Abnormality of the mitochondrion Hypoplasia of the thymus Turricephaly Aminoaciduria Joint contracture of the hand Dolichocephaly Upslanted palpebral fissure Humoral immunodeficiency Abnormality of cardiovascular system morphology Intellectual disability, severe Nystagmus Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Brittle hair Leukopenia Generalized neonatal hypotonia Long philtrum Rigidity Proptosis Narrow mouth Osteoporosis Prominent forehead Immunodeficiency Diarrhea Respiratory tract infection Anteverted nares Frontal bossing Downslanted palpebral fissures Wide nasal bridge Depressed nasal bridge Abnormal facial shape Macrogyria Abnormality of the pinna Wide mouth Aortic regurgitation Premature birth Abnormality of the hair Chronic diarrhea Depressed nasal ridge Fine hair Pancytopenia Tetralogy of Fallot Bifid uvula Sparse hair Sepsis Wide nose Dry skin Delayed puberty Pulmonic stenosis Small for gestational age Broad forehead Abnormality of the eye Glutaric acidemia Retrognathia Gait disturbance Abnormal pyramidal sign Mental deterioration Abnormality of the nervous system Neonatal hypotonia Dystonia Behavioral abnormality Tremor Neurological speech impairment Dysarthria Hyperreflexia Mandibulofacial dysostosis Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Skin rash Abnormality of the cerebral white matter Macrocytic anemia Intellectual disability, profound Neurofibrillary tangles Athetosis Dysphonia Schizophrenia Intention tremor Psychosis Spastic tetraplegia Ophthalmoplegia Mitral valve prolapse Chorea Tetraplegia Sleep disturbance Bruising susceptibility Retinal degeneration Broad neck Ectopic kidney Trismus Lethargy Anisocytosis Increased serum ferritin Reticulocytosis Cholelithiasis Hydrops fetalis Hemolytic anemia Pallor Cholecystitis Fatigue Conjugated hyperbilirubinemia Abnormality of the coagulation cascade Hyperbilirubinemia Hepatic steatosis Hypoglycemia Poikilocytosis Nonspherocytic hemolytic anemia Atresia of the external auditory canal Respiratory distress Choanal atresia Congenital diaphragmatic hernia Conductive hearing impairment Posteriorly rotated ears Midface retrusion Malar flattening Reduced red cell pyruvate kinase activity Chronic hemolytic anemia Elevated transferrin saturation Compensated hemolytic anemia Increased red cell osmotic fragility Abnormal erythrocyte morphology Congenital hemolytic anemia Unconjugated hyperbilirubinemia Loss of speech Head tremor Respiratory failure Ureteral atresia Hypertrophic cardiomyopathy Cerebral cortical atrophy Hypogonadism Cardiomyopathy Hypertension Pancreatic dysplasia Multiple glomerular cysts Nephropathy Pancreatic fibrosis Potter facies Portal fibrosis Hepatic cysts Pancreatic cysts Short sternum Thin vermilion border Nephrotic syndrome Asplenia Fever Hyperactivity Visual loss Encephalopathy Hypertonia Vomiting Optic atrophy Peripheral neuropathy Portal hypertension Motor delay Feeding difficulties Budd-Chiari syndrome Type I transferrin isoform profile Abnormality of immune system physiology Abnormality of coagulation Biliary cirrhosis Polysplenia Supranuclear gaze palsy Bone-marrow foam cells Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Supranuclear ophthalmoplegia Fatal liver failure in infancy Cataplexy Vertical supranuclear gaze palsy Visceromegaly Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Low cholesterol esterification rates Short neck Enlarged kidney Dandy-Walker malformation Preauricular pit Type I diabetes mellitus Spontaneous abortion Situs inversus totalis Aortic valve stenosis Renal dysplasia Intestinal malrotation Atrial septal defect Postaxial polydactyly Pulmonary hypoplasia Stage 5 chronic kidney disease Abnormality of the kidney Polydactyly Diabetes mellitus Renal insufficiency Elevated long chain fatty acids


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