Intrauterine growth retardation, and Gastrointestinal hemorrhage

Diseases related with Intrauterine growth retardation and Gastrointestinal hemorrhage

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

Top 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

CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

Related symptoms:

  • Ataxia
  • Growth delay
  • Spasticity
  • Hypertension
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

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

Other less relevant matches:

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Medium match COATS PLUS SYNDROME

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Medium match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Gastrointestinal hemorrhage

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Hypertension Common - Between 50% and 80% cases
Cerebral calcification Uncommon - Between 30% and 50% cases
Portal hypertension Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Global developmental delay Cirrhosis Osteopenia Telangiectasia Alopecia Sparse hair Seizures Nail dystrophy Strabismus Intellectual disability Dilatation Microcephaly Cryptorchidism Thrombocytopenia Osteoporosis Retinopathy Abnormality of skin pigmentation Ataxia Small for gestational age Failure to thrive Sepsis Generalized hypotonia Hypopigmentation of the skin Nail dysplasia Diarrhea Malabsorption Cerebellar hypoplasia Hearing impairment Oral leukoplakia Cataract Abnormal intestine morphology Arterial stenosis Bone marrow hypocellularity Scarring Leukopenia Ventricular septal defect Esophageal varix Premature graying of hair Abnormality of the vasculature Hypertonia Pancytopenia Spasticity Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases

Pulmonic stenosis Blindness Myopia Visual impairment Scoliosis Reticulated skin pigmentation Phimosis Esophageal stricture Aplastic anemia Brachycephaly Pulmonary fibrosis Micrognathia Leukemia Epiphora Renal insufficiency Abnormality of the kidney Hodgkin lymphoma Atrial septal defect Muscular hypotonia Neoplasm Ventriculomegaly Congestive heart failure Visual loss Prolonged neonatal jaundice Short distal phalanx of finger Pulmonary artery stenosis Recurrent fractures Hepatosplenomegaly Sparse scalp hair Coarctation of aorta Abnormality of the liver Postnatal growth retardation Optic atrophy Dysarthria Tetralogy of Fallot Excessive wrinkled skin Abnormality of cardiovascular system morphology Peripheral arterial stenosis Telangiectasia of the skin Jaundice Hemiparesis Intracranial hemorrhage Hyperextensible skin Cutis laxa Joint hyperflexibility Pruritus Stroke Carcinoma Chorioretinal atrophy Cutis marmorata Hyperpigmentation of the skin Immunodeficiency Duodenal atresia Jejunal atresia Thickened skin Severe intrauterine growth retardation Biliary atresia Dystonia Hematochezia Ectopic calcification Leukodystrophy Retinal telangiectasia Intestinal malrotation Intestinal atresia Dry skin Fine hair Ascites Anal atresia Aplastic/hypoplastic toenail Abnormal anterior chamber morphology Abnormal pulmonary valve morphology Band keratopathy Venous malformation Absent fingernail Absent hand Chylothorax Papillary thyroid carcinoma Hypopigmentation of the fundus Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Abnormality of the upper limb Axenfeld anomaly Pulmonary artery atresia Butterfly vertebrae Fat malabsorption Oligohydramnios Gliosis Muscular hypotonia of the trunk Carious teeth Cerebral cortical atrophy Hyperhidrosis Hyporeflexia Hypospadias Abnormality of the dentition Respiratory distress Peripheral pulmonary artery stenosis Decreased testicular size Aplasia cutis congenita on trunk or limbs Acrania Imperforate hymen Periventricular cysts Abnormal pupil morphology Cutis marmorata telangiectatica congenita Absent toe Aplasia cutis congenita over posterior parietal area Double outlet right ventricle Hypoplastic fingernail Prominent nasal bridge Chronic hepatic failure Polymicrogyria Cleft upper lip Talipes Toe syndactyly Intrahepatic biliary atresia Unicoronal synostosis Rectourethral fistula Finger syndactyly Abnormal cardiac septum morphology Esotropia EEG abnormality Abnormal heart morphology Patent ductus arteriosus Microphthalmia Syndactyly Hydrocephalus Hypoplasia of the corpus callosum Reduced number of intrahepatic bile ducts Talipes equinovarus Brachydactyly Premature birth Multiple small medullary renal cysts Abnormality of the lower limb Cortical dysplasia Arteriovenous malformation Calvarial skull defect Thyroid carcinoma Central hypotonia Vitamin D deficiency Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Hypoplastic left heart Pulmonary arterial hypertension Renal artery stenosis Supernumerary nipple Abnormality of the metacarpal bones Bicuspid aortic valve Meningitis Aortic valve stenosis Pachygyria Encephalocele Split hand Small nail Decreased fetal movement Truncal ataxia Cholestatic liver disease Craniosynostosis Vertebral segmentation defect Triangular face Hypodontia Microcornea Flat face Hepatic failure Stage 5 chronic kidney disease Delayed puberty Broad forehead Short philtrum Protruding ear Vesicoureteral reflux Conductive hearing impairment Elevated hepatic transaminase Long nose Deeply set eye Keratoconus Coarse facial features Renal tubular acidosis Macrotia Acidosis Upslanted palpebral fissure Malnutrition Hypoplasia of the ulna Abnormality of the ureter Finger clinodactyly Renal dysplasia Cholestasis Exotropia Hypertriglyceridemia Lymphedema Abnormal vertebral morphology Pointed chin Hemivertebrae Multicystic kidney dysplasia Renal hypoplasia Nephrotic syndrome Round face Spina bifida occulta Hypercholesterolemia Abnormality of the ribs Pigmentary retinopathy Corneal dystrophy Renal hypoplasia/aplasia Glomerulosclerosis Heart murmur Specific learning disability Prominent nose Prominent forehead Clinodactyly of the 5th finger Intrahepatic cholestasis Flared metaphysis Ridged nail Chromosome breakage Blepharitis Premature loss of teeth Generalized hyperpigmentation Acute myeloid leukemia Myeloid leukemia Restrictive ventilatory defect Increased antibody level in blood Abnormality of coagulation Squamous cell carcinoma Keratoconjunctivitis Neonatal respiratory distress Myelodysplasia Pterygium Dermal atrophy Anosmia Sparse eyelashes Conjunctivitis Horseshoe kidney Abnormal form of the vertebral bodies Coronal craniosynostosis Testicular atrophy Lacrimal duct stenosis Delayed skeletal maturation Hypertelorism Areflexia Posterior embryotoxon Clinodactyly Exocrine pancreatic insufficiency Intellectual disability, mild Frontal bossing Downslanted palpebral fissures Hepatomegaly Depressed nasal bridge Abnormal facial shape Hepatocellular carcinoma Urethral stenosis Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Abnormal leukocyte morphology Dilatation of the cerebral artery Pancreatic adenocarcinoma Reticular hyperpigmentation Cognitive impairment Developmental regression Cleft palate Blue sclerae Acne Abnormality of the thorax Redundant skin Ischemic stroke Atherosclerosis Macular degeneration Nephrocalcinosis Subcutaneous nodule Mitral regurgitation Myocardial infarction Mitral valve prolapse Hemiplegia/hemiparesis Abnormality of the cardiovascular system Abnormality of the skin Sudden cardiac death Postural instability Bruising susceptibility Papule Skin rash Hypothyroidism Reduced visual acuity Edema Tricuspid regurgitation Coronary artery atherosclerosis High palate Restrictive cardiomyopathy Intermittent claudication Retinal hemorrhage Abnormal endocardium morphology Choroidal neovascularization Pulmonary insufficiency Arteriosclerosis Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Lack of skin elasticity Hypermelanotic macule Angina pectoris Abnormality of the cerebral vasculature Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe vision loss Striae distensae Multiple lipomas Abnormal retinal morphology Cardiomyopathy Pulmonary hemorrhage Metamorphopsia Annular pancreas Lymphopenia Omphalocele Hepatitis Decreased antibody level in blood Abdominal distention Hemolytic anemia Autoimmunity Polyhydramnios Acholic stools Diabetic ketoacidosis Absent gallbladder Psoriasiform dermatitis Meckel diverticulum Pancreatic hypoplasia Maternal diabetes Ketoacidosis Iron deficiency anemia Anteriorly placed anus Tracheoesophageal fistula Hyperglycemia Hyperbilirubinemia Diabetes mellitus Type I diabetes mellitus Inflammation of the large intestine Aseptic necrosis Rectal abscess Interstitial pulmonary abnormality Abnormal lung morphology Lymphoma Delayed speech and language development Abnormality of the ductus choledochus Peritoneal abscess Congenital cystic adenomatoid malformation of the lung Jejunoileal ulceration Decreased proportion of CD8-positive T cells Gastrointestinal atresia Microcolon Absent eyebrow Bloody diarrhea Duodenal stenosis Hypoplasia of the thymus Abnormality of abdomen morphology Severe combined immunodeficiency Alopecia of scalp Hashimoto thyroiditis Thyroiditis Autoimmune hemolytic anemia Combined immunodeficiency Angioid streaks of the fundus Renovascular hypertension Therapeutic abortion Progressive neurologic deterioration Abnormal palate morphology Shock Spastic tetraparesis Joint dislocation Wormian bones Chronic diarrhea Abnormality of the face Bowing of the long bones Abnormality of the metaphysis Choreoathetosis Tetraparesis Metaphyseal widening Intellectual disability, profound Generalized-onset seizure Chorea Full cheeks Neurodegeneration Narrow chest Nausea and vomiting Severe global developmental delay Feeding difficulties in infancy Joint laxity Coarse hair Mask-like facies Umbilical hernia Pili torti Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Woolly hair Cerebral hemorrhage Hypothermia Atypical scarring of skin Exostoses Abnormality of lipid metabolism Hypopigmentation of hair Tarsal synostosis Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Hypoglycemia Dementia Abnormality of connective tissue Subretinal fluid Genu valgum Abnormality of the cerebral white matter Abnormal pyramidal sign Mental deterioration Tremor Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Peau d'orange Febrile seizures Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of movement Abnormality of extrapyramidal motor function Inguinal hernia Spastic hemiparesis Pectus excavatum Hernia Cerebral atrophy Behavioral abnormality Cerebellar atrophy Intellectual disability, severe Fatigue Motor delay Muscle weakness Decreased pulmonary function Exudative retinopathy Thin skin Retinal exudate Metaphyseal sclerosis Intestinal bleeding Morphological abnormality of the pyramidal tract Calcinosis Pathologic fracture Short femoral neck Hemiplegia Increased susceptibility to fractures Leukoencephalopathy Butterfly vertebral arch


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