Failure to thrive, and Oligohydramnios

Diseases related with Failure to thrive and Oligohydramnios

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

Top matches:

High match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

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

Other less relevant matches:

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

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

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

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Oligohydramnios

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Atrial septal defect Small for gestational age Hypertension Patent ductus arteriosus Abnormal heart morphology Pulmonic stenosis Abnormal facial shape Intestinal malrotation Low-set ears Microcephaly Hernia Cutis laxa Cerebral atrophy Generalized hypotonia Patent foramen ovale Intellectual disability Cryptorchidism Short stature Hypertelorism Gastroesophageal reflux

Rare Symptoms - Less than 30% cases

Ptosis Retrognathia Dextrocardia Hydronephrosis Transposition of the great arteries Hepatomegaly Wide nasal bridge Biliary atresia Tetralogy of Fallot Dilatation Pectus excavatum Decreased liver function Prominent nasal bridge Pancytopenia Wide mouth Ascites Cirrhosis Vesicoureteral reflux Micrognathia Cardiac arrest Polyhydramnios Elevated hepatic transaminase Inguinal hernia Muscular hypotonia Respiratory insufficiency Anemia Strabismus Situs inversus totalis Cardiomegaly Telangiectasia Short philtrum Deeply set eye Hearing impairment Scoliosis Wide anterior fontanel Cleft palate Recurrent respiratory infections Cervical ribs Talipes equinovarus Anal atresia Downslanted palpebral fissures Abnormality of the ureter Abnormality of the uterus Hepatitis 11 pairs of ribs Aplasia/Hypoplasia of the lungs Xerostomia Congenital diaphragmatic hernia Hemivertebrae Hyperbilirubinemia Hyperglycemia Decreased fertility Gliosis Congenital hypothyroidism Exocrine pancreatic insufficiency Vertebral segmentation defect Pulmonary artery stenosis Hydroureter Truncus arteriosus Bilateral cryptorchidism Decreased testicular size Single umbilical artery Glycosuria Intestinal atresia Volvulus Congenital posterior urethral valve Mild microcephaly Congenital hip dislocation Multicystic kidney dysplasia Abdominal wall defect Prune belly Abnormality of the bladder Megacystis Urethral stenosis Urethral obstruction Abnormality of the urinary system Fetal ascites Urogenital sinus anomaly Abnormal cardiac septum morphology Dilatation of the bladder Aplasia of the abdominal wall musculature Aplasia of the musculature Epistaxis Abnormality of the skeletal system Respiratory distress Abnormality of the ribs Diabetes mellitus Umbilical hernia Neonatal hypotonia Miosis Recurrent urinary tract infections Flexion contracture Prolonged partial thromboplastin time Myoclonus Poor speech Severe global developmental delay Intellectual disability, moderate Muscular hypotonia of the trunk Aggressive behavior Thin upper lip vermilion Clinodactyly Wide nose Short nose Hypoplasia of the corpus callosum Anteverted nares Optic atrophy Brachydactyly Epicanthus Delayed speech and language development Short distal phalanx of finger Downturned corners of mouth 3-Methylglutaconic aciduria Cortical gyral simplification Hemiclonic seizures Capillary malformation Right ventricular hypertrophy Short 5th finger Central hypotonia Long palpebral fissure Spastic tetraparesis Hypoplasia of the maxilla Short toe Progressive microcephaly Tetraparesis Small nail Ventricular hypertrophy Sloping forehead Delayed myelination Spasticity Severe lactic acidosis Ureteral duplication Anterior pituitary agenesis Colon perforation Congenital defect of the pericardium Hypoplastic tricuspid valve Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Aplasia/Hypoplasia of the gallbladder Ataxia Left-to-right shunt Neonatal insulin-dependent diabetes mellitus Microcolon Intermittent diarrhea Pancreatic hypoplasia Perimembranous ventricular septal defect Interrupted aortic arch Total absence of the pericardium Frontal bossing Severe failure to thrive Increased serum lactate Rocker bottom foot Hyperammonemia Severe muscular hypotonia Spontaneous abortion Aortic valve stenosis Renal hypoplasia Aciduria Metabolic acidosis Cardiomyopathy Lactic acidosis Camptodactyly Hypertrophic cardiomyopathy Acidosis Hypospadias Abnormality of cardiovascular system morphology Congestive heart failure Abnormality of the skin Abnormality of the kidney Abdominal distention Macrocephaly Polysplenia Asplenia Duodenal atresia Pulmonary artery atresia Abdominal situs inversus Heterotaxy Common atrium Single ventricle Pulmonary artery hypoplasia Mitral atresia Dextrotransposition of the great arteries Posteriorly placed anus Myopia Hydrocephalus Double outlet right ventricle Prominent forehead Proptosis Pes planus Craniosynostosis Arthrogryposis multiplex congenita Arachnodactyly Bruising susceptibility High, narrow palate Premature birth Mitral valve prolapse High myopia Tall stature Increased body weight Relative macrocephaly Myelomeningocele Abnormal lung lobation Ectopia lentis Camptodactyly of finger Sensorineural hearing impairment Decreased fetal movement Aganglionic megacolon Abnormal autonomic nervous system physiology Neuroblastoma Breathing dysregulation Central hypoventilation Central sleep apnea Ganglioneuroma Abnormality of the dentition Long philtrum Narrow mouth Feeding difficulties in infancy Joint stiffness Neurological speech impairment Ciliary dyskinesia Underdeveloped nasal alae Depressed nasal ridge Nasal speech Ulnar deviation of finger Malignant hyperthermia Dimple chin Prenatal movement abnormality Absent palmar crease Arrhythmia Cerebellar hypoplasia Respiratory tract infection Dyskinesia Renal agenesis Holoprosencephaly Lipodystrophy Aortic aneurysm Hip dislocation Hydrops fetalis Small scrotum Depressed nasal bridge Edema Splenomegaly Thrombocytopenia Hepatosplenomegaly Synophrys Thin vermilion border Triangular face Abnormal bleeding Asthma Coarctation of aorta Hepatic fibrosis Deep philtrum Anasarca Poor suck Clitoral hypertrophy Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Cognitive impairment Renal insufficiency Constipation Pectus carinatum Vitamin A deficiency Vitamin D deficiency Reduced subcutaneous adipose tissue Osteopenia Aortic root aneurysm Scaphocephaly Severe intrauterine growth retardation Narrow nose Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Prominent scalp veins High palate Vomiting Recurrent infections Hypoglycemia Bile duct proliferation Joint laxity Abnormality of the eye Abnormality of the liver Cough Abnormality of eye movement Hepatic steatosis Cholestasis Abnormal lung morphology Hypocalcemia Tachypnea Hypoalbuminemia Portal hypertension Rickets Interstitial pulmonary abnormality Abnormal hair whorl


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