Failure to thrive, and Coarctation of aorta

Diseases related with Failure to thrive and Coarctation of aorta

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

Top matches:

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Edema
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

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

Other less relevant matches:

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

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

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

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Coarctation of aorta

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Intrauterine growth retardation Intellectual disability Cryptorchidism Hypertelorism Generalized hypotonia Ventricular septal defect Patent ductus arteriosus Abnormal cardiac septum morphology Muscular hypotonia Short nose Hydronephrosis Abnormal heart morphology Epicanthus Deeply set eye Camptodactyly Short stature Vesicoureteral reflux Strabismus Low-set ears Microcephaly Pulmonic stenosis Macrocephaly Tetralogy of Fallot Microphthalmia Anteverted nares Inguinal hernia Agenesis of corpus callosum Wide nasal bridge Edema

Rare Symptoms - Less than 30% cases

Splenomegaly Anxiety Renal insufficiency Brachycephaly Hepatomegaly Depressed nasal bridge Depressivity Midface retrusion Sleep disturbance Autism Abnormality of the kidney Behavioral abnormality Hypertension Stroke Synophrys Cirrhosis Triangular face Hyperactivity Oligohydramnios Proteinuria Coloboma High palate Absent septum pellucidum Ventriculomegaly Feeding difficulties Renal hypoplasia Long nose Pointed chin Pectus excavatum Respiratory distress Blepharophimosis Truncus arteriosus Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Sensorineural hearing impairment Delayed speech and language development Frontal bossing Cerebral atrophy Micrognathia Decreased liver function Scoliosis Flexion contracture Abnormality of the skeletal system Cholestasis Joint laxity Broad forehead Arachnodactyly Intestinal malrotation Abnormality of the genital system Renal malrotation Aplasia/Hypoplasia of the skin Neoplasm Right aortic arch with mirror image branching Bilateral microphthalmos Agenesis of pulmonary vessels Abnormal spleen morphology Bicornuate uterus Abnormality of the uterus Pulmonary artery atresia Hamartoma Mild intrauterine growth retardation Hypoplastic left atrium Hiatus hernia Generalized hyperpigmentation Hypoplasia of the uterus Rocker bottom foot Aplasia cutis congenita Abnormality of the ureter Arachnoid cyst Anophthalmia Hypoplastic spleen Multiple lipomas Opacification of the corneal stroma Abnormality of the ear Polyhydramnios Brachydactyly Pulmonary artery hypoplasia Pelvic kidney Single ventricle Hypospadias Overriding aorta Alopecia Annular pancreas Abnormality of the diaphragm Bilateral lung agenesis Proptosis Telecanthus Lymphedema Duodenal stenosis Facial asymmetry Astigmatism Aplasia/Hypoplasia of the pancreas Short palm Nevus Abnormality of the cardiovascular system Short palpebral fissure Aganglionic megacolon Hyperpigmentation of the skin Diaphragmatic eventration Transient ischemic attack Anisometropia Eyelid coloboma Autistic behavior Focal segmental glomerulosclerosis Hypoplastic left heart Cortical gyral simplification Corpus callosum atrophy Hand clenching Diffuse mesangial sclerosis Hypertensive crisis Cataract Talipes equinovarus Hydrocephalus Long philtrum Clinodactyly of the 5th finger Aggressive behavior Intellectual disability, moderate Attention deficit hyperactivity disorder Hypoalbuminemia Hand polydactyly Interrupted aortic arch Broad hallux phalanx Foot polydactyly Transposition of the great arteries High hypermetropia Broad hallux Schizophrenia Toe syndactyly Broad thumb Short foot Iris coloboma Bulbous nose Joint hypermobility Joint hyperflexibility Glomerulosclerosis Lissencephaly Lower limb asymmetry Abnormality of the bladder Abnormality of the genitourinary system Gastrointestinal atresia Abnormal conjunctiva morphology Exstrophy Laryngeal hypoplasia Epidermal nevus Parietal bossing Nystagmus Abnormality of the penis Epibulbar dermoid Fibroma Bladder exstrophy Epispadias Abnormality of nervous system morphology Ossifying fibroma Spasticity Hypocalcemia Convex nasal ridge Leukodystrophy Postnatal microcephaly Pachygyria Nephrotic syndrome Sloping forehead Narrow forehead Ichthyosis Visual impairment Stage 5 chronic kidney disease Hip dislocation Narrow mouth Cerebellar hypoplasia Cerebellar atrophy Downslanted palpebral fissures Optic nerve hypoplasia Malabsorption Horseshoe kidney Wide anterior fontanel Narrow maxilla Anemia Thrombocytopenia Hepatosplenomegaly Wide mouth Short philtrum Small for gestational age Thin vermilion border Abnormal bleeding Asthma Pancytopenia Telangiectasia Hepatic fibrosis Hydrops fetalis Narrow nose Situs inversus totalis Cutis laxa Deep philtrum Poor suck Patent foramen ovale Clitoral hypertrophy Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Soft skin Cutis marmorata Abnormality of glutamine metabolism Skeletal muscle atrophy Vomiting Diarrhea Papule Postural instability Dehydration Epidermal acanthosis Long eyelashes Recurrent pneumonia Pustule Enlarged kidney Bronchiolitis Recurrent bronchiolitis Muscle weakness Elevated hepatic transaminase Short chin Poor speech Hepatic steatosis Progressive muscle weakness Hyperbilirubinemia Secundum atrial septal defect Portal fibrosis Hypermethioninemia Narrow foot Constipation Carious teeth Anal atresia Thin skin Dental crowding Finger clinodactyly Increased serum bile acid concentration Obesity Abnormal lung morphology Wolff-Parkinson-White syndrome Hematuria Renal cyst Cyanosis Pigmentary retinopathy Renal dysplasia Increased body weight Rickets Heart murmur Renal tubular acidosis Posterior embryotoxon Exocrine pancreatic insufficiency Poor coordination Pulmonary artery stenosis Cholestatic liver disease Pruritus Peripheral pulmonary artery stenosis Butterfly vertebrae Dark urine Axenfeld anomaly Respiratory insufficiency Hernia Severe short stature Respiratory failure Protruding ear Pectus carinatum Pulmonary hypoplasia Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Intellectual disability, profound Hepatic failure Retinopathy Cerebral cortical atrophy Flat occiput Irritability Downturned corners of mouth Everted lower lip vermilion Highly arched eyebrow Macroglossia Specific learning disability Hypoplasia of penis Status epilepticus Aortic valve stenosis Absence seizures Aortic regurgitation Mutism Apathy Aphasia Scarring Dysphasia Protruding tongue Epileptic spasms Echolalia Abnormality of the testis Femoral hernia Subcortical cerebral atrophy Conotruncal defect Cerebral cortical hemiatrophy Cognitive impairment Mandibular prognathia Acidosis Jaundice Abnormality of the liver Ankyloglossia


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