Failure to thrive, and Intestinal malrotation

Diseases related with Failure to thrive and Intestinal malrotation

In the following list you will find some of the most common rare diseases related to Failure to thrive and Intestinal malrotation that can help you solving undiagnosed cases.

Top matches:

Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.

ISOLATED BILIARY ATRESIA Is also known as isolated atresia of bile ducts|non-syndromic biliary atresia

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED BILIARY ATRESIA

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Other less relevant matches:

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Medium match PRUNE BELLY SYNDROME

Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Top 5 symptoms//phenotypes associated to Failure to thrive and Intestinal malrotation

Symptoms // Phenotype % cases
Ventricular septal defect Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Abdominal distention Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Intestinal malrotation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Volvulus Abnormal facial shape Intrauterine growth retardation Hydronephrosis Cryptorchidism Constipation Anal atresia Biliary atresia Pulmonic stenosis Oligohydramnios Aganglionic megacolon Vomiting Cognitive impairment Intellectual disability Microcephaly Micrognathia Short stature Scoliosis Abnormal cardiac septum morphology Tetralogy of Fallot Vesicoureteral reflux Hypertension

Rare Symptoms - Less than 30% cases

Flexion contracture Broad forehead Umbilical hernia Coarctation of aorta Arachnodactyly Inguinal hernia Prune belly Carious teeth Camptodactyly Cervical ribs Long nose Hernia Pectus excavatum Abnormality of the uterus Respiratory distress Abnormality of the skeletal system Abnormality of the genital system Wide nasal bridge Urethral obstruction Truncus arteriosus Microcolon Growth delay Dilatation Global developmental delay Pectus carinatum Pulmonary artery hypoplasia Intestinal pseudo-obstruction Single ventricle Cleft palate Abdominal situs inversus Pulmonary artery atresia Horseshoe kidney Transposition of the great arteries Recurrent urinary tract infections Congenital diaphragmatic hernia Hydroureter Abnormality of cardiovascular system morphology Recurrent respiratory infections Megacystis Intestinal obstruction Congenital shortened small intestine Diarrhea Asplenia Polysplenia Portal hypertension Hemivertebrae Hyperbilirubinemia Pyloric stenosis Increased body weight Malnutrition Situs inversus totalis Hepatic failure Dextrocardia Seizures Low-set ears Hypertelorism Elevated hepatic transaminase Downslanted palpebral fissures Peripheral neuropathy Hypoperistalsis Ureteral duplication Interrupted aortic arch Perimembranous ventricular septal defect Pancreatic hypoplasia Intermittent diarrhea Achalasia Neonatal insulin-dependent diabetes mellitus Congenital posterior urethral valve Left-to-right shunt Aplasia/Hypoplasia of the gallbladder Mild microcephaly Anterior pituitary agenesis Hypoplasia of right ventricle Pancreatic aplasia Double outlet left ventricle Hypoplastic tricuspid valve Congenital defect of the pericardium Colon perforation Total absence of the pericardium Generalized hypotonia Hearing impairment Muscular hypotonia Prolonged partial thromboplastin time Gastrointestinal obstruction Single umbilical artery Cardiac arrest Cerebral atrophy Barrett esophagus Pollakisuria Diabetes mellitus Neonatal hypotonia Urinary retention Small for gestational age Gliosis Hepatitis Aplasia/Hypoplasia of the abdominal wall musculature Patent foramen ovale Dilatation of the bladder Hyperglycemia Glycosuria Hypoplasia of the corpus callosum Congenital hypothyroidism Exocrine pancreatic insufficiency Feeding difficulties Aplasia of the musculature Aplasia of the abdominal wall musculature Pulmonary artery stenosis Neuroma Peritonitis Respiratory insufficiency Hyperparathyroidism Microphthalmia Polyhydramnios Bilateral microphthalmos Diaphragmatic eventration Duodenal stenosis Abnormality of the liver Annular pancreas Overriding aorta Pelvic kidney Renal malrotation Bilateral lung agenesis Joint stiffness Right aortic arch with mirror image branching Low-set, posteriorly rotated ears Weight loss Hiatus hernia Abdominal pain Pneumonia Mild intrauterine growth retardation Aplasia/Hypoplasia of the pancreas Myopathy Hypoplastic spleen Anteverted nares Dysphagia Hypoplastic left atrium Abnormal spleen morphology Skeletal muscle atrophy Agenesis of pulmonary vessels Pain Bicornuate uterus Hypoplasia of the uterus Chronic constipation Blepharophimosis Severe short stature Episodic abdominal pain Brachycephaly Respiratory failure Fever Disproportionate tall stature Anonychia Hypoalbuminemia External ophthalmoplegia Pancreatitis Abnormality of the kidney Protruding ear Interphalangeal joint contracture of finger Rocker bottom foot Pulmonary hypoplasia Bilateral sensorineural hearing impairment Overgrowth Round face Intellectual disability, profound Renal hypoplasia Abnormal lung morphology Narrow chest Ophthalmoplegia Abnormality of the genitourinary system Optic nerve hypoplasia Anophthalmia Prominent nasal bridge Abnormality of the diaphragm Mild myopia Fetal ascites Dental crowding Thrombocytopenia Feeding difficulties in infancy Smooth philtrum Spastic diplegia Multiple lipomas Arthropathy Increased mean platelet volume Increased size of the mandible Short nose Deeply set eye Joint laxity Thin skin Pointed chin Decreased intestinal transit time Finger clinodactyly Short chin Cutis marmorata Narrow nose Soft skin Narrow maxilla Arrhythmia Cerebellar hypoplasia Respiratory tract infection Dyskinesia Renal agenesis Cardiomegaly Holoprosencephaly Abnormal peristalsis Intestinal hypoplasia Abnormal lung lobation Increased total bilirubin Hepatomegaly Jaundice Irritability Scarring Cirrhosis Ventricular hypertrophy Cholestasis Right ventricular hypertrophy Conjugated hyperbilirubinemia Bile duct proliferation Portal fibrosis Dark urine Unconjugated hyperbilirubinemia Displacement of the external urethral meatus Acholic stools Intrahepatic biliary atresia Extrahepatic biliary duct atresia Atretic gallbladder Gastroesophageal reflux Hypotrichosis Malabsorption Sepsis Chronic diarrhea Steatorrhea Lipoatrophy Gastroparesis Absent hand Ciliary dyskinesia Double outlet right ventricle Abnormality of the bladder Multicystic kidney dysplasia Pes valgus Posterior helix pit Talipes equinovarus Renal insufficiency Hip dislocation Ascites Abnormality of the skin Decreased testicular size Abnormality of the ribs Epistaxis Telangiectasia Congenital hip dislocation Cutis laxa Preeclampsia Abnormality of the urinary system Bilateral cryptorchidism Vertebral segmentation defect Decreased fertility Abnormality of the ureter Xerostomia Aplasia/Hypoplasia of the lungs 11 pairs of ribs Miosis Intestinal atresia Urogenital sinus anomaly Urethral stenosis Abdominal wall defect Overbite Low hanging columella Myelomeningocele Retrognathia Duodenal atresia Heterotaxy Common atrium Mitral atresia Dextrotransposition of the great arteries Posteriorly placed anus High palate Delayed speech and language development Myopia Intellectual disability, mild Syndactyly Delayed skeletal maturation Autism Postnatal growth retardation Broad hallux Autistic behavior Genu valgum Hirsutism Highly arched eyebrow Premature birth Dental malocclusion Prominent nose Convex nasal ridge Broad thumb Long eyelashes Narrow palate Delayed gross motor development Overlapping toe Megaduodenum


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