Failure to thrive, and Situs inversus totalis

Diseases related with Failure to thrive and Situs inversus totalis

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


Top matches:

High match ISOLATED BILIARY ATRESIA


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

High match HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1


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

High match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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Other less relevant matches:

High match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

High match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

High match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

High match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

High match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

High match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

High match CONGENITAL SHORT BOWEL SYNDROME


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

Top 5 symptoms//phenotypes associated to Failure to thrive and Situs inversus totalis

Symptoms // Phenotype % cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Dextrocardia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Failure to thrive and Situs inversus totalis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect

Common Symptoms - More than 50% cases


Cleft palate

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hydronephrosis Hypospadias Abnormal heart morphology Abnormality of cardiovascular system morphology Intestinal malrotation Abnormal facial shape Renal agenesis Severe short stature Cryptorchidism Strabismus Microcephaly Patent ductus arteriosus Scoliosis Anal atresia Abnormality of the kidney Intellectual disability, severe Respiratory tract infection Common atrium Epicanthus Heterotaxy Abnormal cardiac septum morphology Hydroureter Long philtrum Transposition of the great arteries Seizures Hypoplastic left heart Tetralogy of Fallot Hepatic failure Micrognathia Hearing impairment Hypertelorism Muscular hypotonia Postnatal growth retardation High palate Low-set ears Anemia Hepatomegaly Talipes equinovarus Generalized hypotonia

Rare Symptoms - Less than 30% cases


Ptosis Delayed speech and language development Upslanted palpebral fissure Hypoplasia of the maxilla Abnormality of the ribs Microdontia Delayed skeletal maturation Polydactyly Pectus carinatum Hemivertebrae Delayed eruption of teeth Dandy-Walker malformation Abnormality of the hair Epispadias Abnormality of the nail Renal hypoplasia/aplasia Mild short stature Agenesis of permanent teeth Aplasia/Hypoplasia of the lungs Abnormality of female internal genitalia Clinodactyly of the 5th finger Diabetes mellitus Behavioral abnormality High, narrow palate Narrow mouth Malabsorption Polyhydramnios Camptodactyly Joint stiffness Arachnodactyly Pulmonary hypoplasia Renal hypoplasia Rectovaginal fistula Steatorrhea Renal dysplasia Joint contracture of the hand Multicystic kidney dysplasia Pyloric stenosis Radioulnar synostosis Hypoplasia of penis Abnormality of the sternum Micropenis Abnormality of the pancreas Mandibular prognathia Narrow face Cognitive impairment Anxiety Sensorineural hearing impairment Abdominal distention Abnormality of the pinna Attention deficit hyperactivity disorder Specific learning disability Laryngomalacia Hypertension Nasal speech Displacement of the external urethral meatus Feeding difficulties Skeletal muscle atrophy Hydrocephalus Hypotrichosis Microphthalmia Pectus excavatum Abnormality of the genitourinary system Alopecia Abnormality of the dentition Cerebellar hypoplasia Clitoral hypertrophy Polysplenia Asplenia Poor suck Biliary atresia Abdominal situs inversus Wide anterior fontanel Oligohydramnios Hyperbilirubinemia Triangular face Thin vermilion border Small for gestational age Short philtrum Double outlet right ventricle Edema Depressed nasal bridge Portal hypertension Duodenal atresia Cirrhosis Cholestasis Elevated hepatic transaminase Increased body weight Anorectal anomaly Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Congenital shortened small intestine Hypothyroidism Convex nasal ridge Intestinal hypoplasia Absence of the sacrum Joint laxity Cleft lip Skin dimples Aplasia cutis congenita of scalp Hemifacial hypoplasia Abnormality of the gallbladder Abnormality of the liver Increased VLDL cholesterol concentration Septate vagina Absent lacrimal punctum Cataract Cerebral atrophy Malar flattening Intellectual disability, mild Blindness Wide nasal bridge Hyperreflexia Spasticity Midline skin dimples over anterior/posterior fontanelles Potter facies Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Abnormality of the urethra Malrotation of small bowel Decreased intestinal transit time Anasarca Abnormal vagina morphology Abnormal tracheobronchial morphology Lacrimation abnormality Widely spaced teeth Downturned corners of mouth Malnutrition Congenital sensorineural hearing impairment Lipoatrophy Oligodontia Single transverse palmar crease Volvulus Gastroparesis Anteriorly placed anus Severe muscular hypotonia Pointed chin Generalized muscle weakness Hypocalcemia Cafe-au-lait spot Sparse scalp hair Underdeveloped nasal alae Glycosuria Hypopituitarism Perineal fistula Vomiting Growth hormone deficiency Dilated cardiomyopathy Asymmetric crying face Patent urachus Hypoproteinemia Abnormal hair pattern Calvarial skull defect Diarrhea Chronic diarrhea Absent hand Fair hair Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypoplastic nipples Sepsis Aganglionic megacolon Gastroesophageal reflux Macrotia Abnormality of the intervertebral disk Syndactyly Vesicoureteral reflux Tachycardia Facial asymmetry Finger syndactyly Low-set, posteriorly rotated ears Vertebral segmentation defect Pneumonia Non-midline cleft lip Congestive heart failure Ambiguous genitalia Occipital encephalocele Dysphagia Abnormal hair laboratory examination Decreased head circumference Wheezing Round ear Phimosis Moderately short stature Macrodontia Premature birth Right bundle branch block Absent radius Short thumb Triphalangeal thumb Hypoplasia of the radius Bifid scrotum Tachypnea Abnormality of the outer ear Unilateral renal agenesis Spina bifida Preauricular skin tag Abnormal vertebral morphology Tracheoesophageal fistula Congenital diaphragmatic hernia Large fontanelles Recurrent urinary tract infections Abnormality of the genital system Preaxial hand polydactyly Ectopic kidney Omphalocele Choanal atresia Small nail Bundle branch block Anteverted ears Broad columella Pes cavus Spastic paraplegia Tethered cord Supernumerary ribs Iris coloboma Bulbous nose Long face Paraplegia Hypermetropia Abnormal sacrum morphology Abnormality of the nasopharynx Coloboma Decreased testicular size Sparse hair Protruding ear Abnormality of the nervous system Thin upper lip vermilion Laryngeal stenosis Vertebral clefting Preaxial polydactyly Brachycephaly Lower limb undergrowth Prominent nose Cavernous hemangioma Thin eyebrow Spastic diplegia Abnormality of the rib cage Small face Aplasia/Hypoplasia of the radius Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge High hypermetropia Cupped ear Ureteropelvic junction obstruction Chorioretinal coloboma Failure to thrive in infancy Cachexia Anencephaly Esophageal atresia Missing ribs Single umbilical artery Tracheal stenosis Atelectasis Narrow foot Inguinal hernia Dilatation Genu valgum Limb undergrowth Nail dysplasia Ectodermal dysplasia Hypodontia Postaxial polydactyly Short distal phalanx of finger Cleft upper lip Micromelia Narrow chest Heterotopia Nail dystrophy Skeletal dysplasia Abnormality of the skeletal system Abnormality of glutamine metabolism Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Micronodular cirrhosis Postaxial hand polydactyly Short ribs Premature skin wrinkling Disproportionate short stature Hypoplastic iliac wing Acute leukemia Postaxial foot polydactyly Upper limb undergrowth Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Atrioventricular canal defect Abnormality of dental enamel Short thorax Thoracic hypoplasia Emphysema Hypoplastic toenails Cubitus valgus Hand polydactyly Abnormality of pelvic girdle bone morphology Short long bone Abnormality of the fingernails Biventricular hypertrophy Patent foramen ovale Abnormal hair quantity Unconjugated hyperbilirubinemia Cardiomegaly Dyskinesia Pulmonic stenosis Recurrent respiratory infections Arrhythmia Atretic gallbladder Extrahepatic biliary duct atresia Intrahepatic biliary atresia Acholic stools Increased total bilirubin Ciliary dyskinesia Dark urine Portal fibrosis Bile duct proliferation Conjugated hyperbilirubinemia Right ventricular hypertrophy Ventricular hypertrophy Scarring Irritability Jaundice Holoprosencephaly Abnormal lung lobation Deep philtrum Synophrys Cutis laxa Hydrops fetalis Decreased liver function Hepatic fibrosis Telangiectasia Pancytopenia Coarctation of aorta Asthma Abnormal bleeding Wide mouth Myelomeningocele Hepatosplenomegaly Thrombocytopenia Splenomegaly Posteriorly placed anus Dextrotransposition of the great arteries Mitral atresia Pulmonary artery hypoplasia Single ventricle Pulmonary artery atresia Thoracic dysplasia Horizontal ribs Short nose Muscular dystrophy Abnormality of the urinary system Abnormality of the face Abnormal form of the vertebral bodies Short palpebral fissure Interphalangeal joint contracture of finger Peripheral demyelination Bifid uvula Talipes Arthrogryposis multiplex congenita Camptodactyly of finger Myotonia Blepharophimosis Aggressive behavior Retrognathia Kyphoscoliosis Hyperactivity Posteriorly rotated ears Agenesis of corpus callosum Areflexia Kyphosis Congenital contracture Hypoplasia of the brainstem Hypoplasia of the corpus callosum Congenital ptosis Cardiomyopathy Fatigue Abnormal anatomic location of the heart Fixed facial expression Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Limb joint contracture Mask-like facies Primitive reflex Abnormality of the upper urinary tract Colpocephaly Distal arthrogryposis Restlessness Submucous cleft hard palate Absent septum pellucidum Decreased muscle mass Metatarsus adductus Myopathy Short neck Abnormal oral mucosa morphology Brachydactyly Smooth philtrum Poor speech Neurological speech impairment Apnea High forehead Autism Prominent forehead Midface retrusion Downslanted palpebral fissures Cone-shaped epiphyses of phalanges 2 to 5 Thick vermilion border Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Abnormality of bone marrow cell morphology Neonatal short-limb short stature Wide nose Gastrointestinal hemorrhage Anteverted nares Urethral stenosis Ventriculomegaly Motor delay Flexion contracture Bilateral trilobed lungs Subependymal cysts Aplasia/Hypoplasia of the thymus Persistent left superior vena cava Anterior creases of earlobe Velopharyngeal insufficiency Total anomalous pulmonary venous return Depressed nasal ridge Abnormality of the pharynx Interrupted aortic arch Anomalous pulmonary venous return Dyslexia Abnormality of immune system physiology Obsessive-compulsive behavior Stridor Sleep apnea Stereotypy Abnormal peristalsis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Omphalocele, related diseases and genetic alterations Fever and Kyphoscoliosis, related diseases and genetic alterations Hydrocephalus and Hypermetropia, related diseases and genetic alterations Ptosis and Prominent forehead, related diseases and genetic alterations

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