Intrauterine growth retardation, and Patent ductus arteriosus

Diseases related with Intrauterine growth retardation and Patent ductus arteriosus

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

Top matches:

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 4; MGORS4

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Medium match TETRALOGY OF FALLOT

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

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

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Patent ductus arteriosus

Symptoms // Phenotype % cases
Ventricular septal defect Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Patent ductus arteriosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Cryptorchidism Respiratory distress Cardiomyopathy Hypertrophic cardiomyopathy Hearing impairment Low-set ears Micrognathia Cleft palate Scoliosis Global developmental delay Hepatomegaly Feeding difficulties Thin vermilion border Lactic acidosis Oligohydramnios Acidosis

Rare Symptoms - Less than 30% cases

Generalized hypotonia Hernia Microtia Choanal atresia Atresia of the external auditory canal Macrocytic anemia Increased mean corpuscular volume Reticulocytopenia Microcephaly Thrombocytopenia Arrhythmia Edema Patent foramen ovale Brachydactyly Wide mouth Abnormal facial shape Tetralogy of Fallot Ventricular hypertrophy Macroglossia Umbilical hernia Retrognathia EEG abnormality Muscle weakness Metabolic acidosis Neonatal respiratory distress Encephalopathy Neonatal hypotonia Increased serum lactate Decreased liver function Short stature Telangiectasia Short philtrum Atrial septal defect Splenomegaly Hepatosplenomegaly Hydronephrosis Abnormality of the kidney Wide anterior fontanel Recurrent lower respiratory tract infections Small for gestational age Pancytopenia Synophrys Hepatic fibrosis Esophagitis Cirrhosis Triangular face Abnormal bleeding Asthma Coarctation of aorta Depressed nasal bridge Neonatal insulin-dependent diabetes mellitus Abnormality of the placenta Cardiomegaly Absence of the pulmonary valve High palate Small hypothenar eminence Vitamin D deficiency Joint laxity Postnatal growth retardation Fetal distress Generalized myoclonic seizures Prominent nose Dehydration Abnormality of the face Labial hypertrophy Gingival overgrowth Precocious puberty Prominent occiput Shallow orbits Hypoplastic fingernail Abnormality of earlobe Secundum atrial septal defect Abdominal wall defect Small anterior fontanelle Situs inversus totalis Hydrops fetalis Poor suck Cutis laxa Failure to thrive in infancy Delayed myelination Dandy-Walker malformation Small nail Triphalangeal thumb Horseshoe kidney Left ventricular hypertrophy Short chin Short thumb Lissencephaly Recurrent otitis media Cutis marmorata Severe global developmental delay Vesicoureteral reflux Neutropenia Protruding tongue Osteopenia Severe failure to thrive Periorbital fullness Skull asymmetry Polyhydramnios Neoplasm Recurrent infections Bifid uvula Coarse facial features Deep philtrum Increased serum bile acid concentration Osteoporosis Clitoral hypertrophy Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Sprengel anomaly Abnormality of the clitoris Abnormality of glutamine metabolism Obesity Sensorineural hearing impairment Pulmonary valve atresia Wide nasal bridge Anteverted nares Short neck Hypoplasia of the corpus callosum Hydrocephalus Hypertonia Long philtrum Absent speech Tetralogy of Fallot with absent pulmonary valve Preauricular pit Overriding aorta Labial hypoplasia Delayed skeletal maturation Narrow mouth Hypoplasia of the maxilla Thick lower lip vermilion Emphysema Slender long bone Thoracic scoliosis Genu recurvatum Hypoplastic labia majora Patellar aplasia Breast hypoplasia Mandibulofacial dysostosis Lateral clavicle hook Birth length less than 3rd percentile Ataxia Muscular hypotonia Cognitive impairment Visual impairment Peripheral neuropathy Optic atrophy Tremor Ventriculomegaly Intellectual disability Cleft soft palate Elevated serum creatine phosphokinase Abnormality of mitochondrial metabolism Dysphagia Extramedullary hematopoiesis Pericardial effusion Cerebellar atrophy Cerebellar hypoplasia Mental deterioration Polyneuropathy Epileptic encephalopathy Neuronal loss in central nervous system Bradycardia Hypoplastic left heart Broad neck Motor deterioration Astrocytosis Decreased activity of mitochondrial respiratory chain Ascites Malar flattening Midface retrusion Posteriorly rotated ears Jaundice Conductive hearing impairment Congenital diaphragmatic hernia Ectopic kidney Dystonia Respiratory failure Endocarditis Polycythemia Pulmonic stenosis Hypertension Cyanosis Hemiparesis Sinusitis Increased body weight Easy fatigability Clubbing Heart murmur Sideroblastic anemia Underdeveloped supraorbital ridges Broad forehead Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Dolichocephaly Abnormal cardiac septum morphology Feeding difficulties in infancy Decreased activity of mitochondrial complex I Dilated cardiomyopathy Peripheral axonal neuropathy Decreased fetal movement Sensorimotor neuropathy Severe muscular hypotonia Ragged-red muscle fibers Apathy Rhabdomyolysis Optic neuropathy Severe lactic acidosis Concentric hypertrophic cardiomyopathy Paralysis Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Congestive heart failure Abnormality of cardiovascular system morphology Clinodactyly Abnormal heart morphology Clinodactyly of the 5th finger Recurrent respiratory infections Proptosis Dyspnea Respiratory tract infection Uterine neoplasm


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