Intrauterine growth retardation, and Diarrhea

Diseases related with Intrauterine growth retardation and Diarrhea

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

Top matches:

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

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

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Other less relevant matches:

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

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

COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5

Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

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 Diarrhea

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Autoimmune hemolytic anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Sparse hair Abnormal intestine morphology Hepatitis Decreased antibody level in blood Intestinal malrotation Sepsis Type I diabetes mellitus Intestinal atresia Recurrent infections Nail dystrophy Hypothyroidism Bloody diarrhea Ventricular septal defect Hemolytic anemia Abnormal facial shape Lymphopenia Autoimmunity Small for gestational age Thrombocytopenia

Rare Symptoms - Less than 30% cases

Eczema Protein-losing enteropathy Pancreatic hypoplasia Hypertelorism Rectal abscess Jejunoileal ulceration Gastrointestinal atresia Jejunal atresia Thyroiditis Congenital cystic adenomatoid malformation of the lung Microcephaly Peritoneal abscess Erythroderma Postnatal growth retardation Cerebellar hypoplasia Abnormality of the ductus choledochus Short stature Lymphadenopathy Inflammatory abnormality of the skin Ectopic calcification Ketoacidosis Duodenal atresia Thickened skin Chronic diarrhea Hepatomegaly Brittle hair Colitis Hypoplasia of the thymus Villous atrophy Polyhydramnios Abdominal distention Omphalocele Intractable diarrhea Diabetes mellitus Severe intrauterine growth retardation Ascites Absent eyebrow Vomiting Hyperglycemia Psoriasiform dermatitis Hashimoto thyroiditis Alopecia of scalp Severe combined immunodeficiency Dicarboxylic aciduria Wide mouth Retinal dystrophy Dandy-Walker malformation Hypoglycemic seizures Intellectual disability, profound High forehead Fasting hyperinsulinemia Abnormality of acetylcarnitine metabolism Hepatic necrosis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Mandibular prognathia Micropenis Hypoglycemic encephalopathy Intellectual disability Increased circulating free fatty acid level Increased C-peptide level Recurrent abscess formation Cutaneous photosensitivity Slow-growing scalp hair Broad-based gait Hepatic failure Brachydactyly Talipes equinovarus Short neck Long philtrum Patent ductus arteriosus Dyspnea Camptodactyly Abnormal cardiac septum morphology Pulmonary hypoplasia Cataract Decreased fetal movement Cholestasis Large fontanelles Lymphedema Decreased liver function Tachypnea Hypoalbuminemia Abnormality of the renal tubule Primary hypothyroidism Cryptorchidism Generalized hypotonia Abnormality of the genital system Decreased plasma carnitine Progressive microcephaly Optic nerve hypoplasia Cutis marmorata Global brain atrophy Progeroid facial appearance Panhypopituitarism Slow-growing hair Microphallus Widely spaced primary teeth Abnormality of the skeletal system Decreased proportion of CD8-positive T cells Alopecia Scarring Anal atresia Inflammation of the large intestine Combined immunodeficiency Abnormality of abdomen morphology Hematochezia Duodenal stenosis Microcolon Prolonged prothrombin time Pulmonary fibrosis Hypoketotic hypoglycemia Respiratory failure Meckel diverticulum Absent gallbladder Annular pancreas Diabetic ketoacidosis Acholic stools Blindness Glaucoma Respiratory tract infection Maternal diabetes Dry skin Ichthyosis Neutropenia Abnormal lung morphology Bronchiectasis Recurrent skin infections Myelodysplasia Atopic dermatitis Biliary atresia Iron deficiency anemia Folliculitis Trichorrhexis nodosa Depressed nasal bridge Wide nasal bridge Prominent forehead Abnormality of the liver Cirrhosis Wide nose Microcytic anemia Woolly hair Hypochromic microcytic anemia Anteriorly placed anus Chronic hepatitis Pili canaliculi Uncombable hair Decreased serum iron Malabsorption Gastrointestinal hemorrhage Hyperbilirubinemia Tracheoesophageal fistula Osteosarcoma Erythroid dysplasia Hyperinsulinemic hypoglycemia Lactic acidosis Peripheral neuropathy Elevated hepatic transaminase Neonatal hypotonia Hypertrophic cardiomyopathy Feeding difficulties in infancy Dilated cardiomyopathy Lethargy Confusion Hepatic steatosis Esophageal stenosis Pigmentary retinopathy Hyperammonemia Mildly elevated creatine phosphokinase Prolonged QT interval Proportionate short stature Myoglobinuria Neonatal hypoglycemia Acute hepatic failure Motor delay Esophageal stricture Arthritis Ileus Nephrotic syndrome Cardiac arrest Eosinophilia Nephritis Abnormality of the coagulation cascade Malnutrition Abnormality of the thyroid gland Immune dysregulation Secretory diarrhea Oral leukoplakia Global developmental delay Cerebellar atrophy Depressivity Carious teeth Abnormality of skin pigmentation Nail dysplasia Bone marrow hypocellularity Leukopenia Abnormal isoelectric focusing of serum transferrin


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