Intrauterine growth retardation, and Pulmonic stenosis

Diseases related with Intrauterine growth retardation and Pulmonic stenosis

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


Top matches:

High match SERKAL SYNDROME


SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

High match IVEMARK SYNDROME


Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

High 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

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Other less relevant matches:

High match PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE 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

High match MATTHEW-WOOD 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

High match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

High match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

High match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

High match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

High match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Pulmonic stenosis

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Intrauterine growth retardation and Pulmonic stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Global developmental delay Respiratory distress Atrial septal defect Tetralogy of Fallot Generalized hypotonia Hypertelorism Short stature Patent ductus arteriosus Seizures Muscular hypotonia Abnormal cardiac septum morphology Hernia Abnormality of the pinna Hypospadias Depressed nasal bridge Dilatation Cerebellar vermis hypoplasia Congenital diaphragmatic hernia Pachygyria Oligohydramnios Anemia Clinodactyly Cleft palate Failure to thrive Hearing impairment Blepharophimosis Micrognathia Truncus arteriosus Abnormal facial shape Wide nasal bridge Hypoplasia of the corpus callosum Microcephaly Brachycephaly Scoliosis Neonatal hypotonia Agenesis of corpus callosum Small for gestational age Downslanted palpebral fissures Intestinal malrotation Flexion contracture Pulmonary artery atresia Abnormality of the genital system

Rare Symptoms - Less than 30% cases


Short neck Underdeveloped supraorbital ridges Interrupted aortic arch Retrognathia Double outlet right ventricle Respiratory insufficiency Right ventricular hypertrophy Patent foramen ovale Pectus excavatum Triangular face Postnatal growth retardation High palate Elevated hepatic transaminase Posteriorly rotated ears Hydrocephalus Inguinal hernia Overriding aorta Microphthalmia Abnormality of the skeletal system Ptosis Hip dislocation Transposition of the great arteries Delayed skeletal maturation Respiratory tract infection Severe short stature Congestive heart failure Pancytopenia Respiratory failure Abnormality of the genitourinary system Atrioventricular canal defect Redundant neck skin Myelodysplasia Delayed puberty Cognitive impairment Biliary atresia Bilateral lung agenesis Microtia Anteverted nares Pulmonary artery stenosis Bilateral cryptorchidism Pulmonary hypoplasia Polyhydramnios Strabismus Cerebellar hypoplasia Delayed speech and language development Brachydactyly Curly hair Abnormality of the kidney Thin vermilion border Dolichocephaly Broad forehead Intermittent diarrhea Single ventricle Clinodactyly of the 5th finger Arrhythmia Proptosis Muscle weakness Pectus carinatum Melanoma Melanocytic nevus Joint hyperflexibility Mitral valve prolapse Bundle branch block Cafe-au-lait spot Left ventricular hypertrophy Subcutaneous nodule Abnormality of the voice Specific learning disability Nevus Myocardial infarction Webbed neck Thick vermilion border Abnormality of the face Spina bifida occulta Hyperextensible skin Scapular winging Hypergalactosemia Low-set, posteriorly rotated ears Aciduria Brittle hair Hypoalbuminemia Recurrent upper respiratory tract infections Leukopenia Aortic regurgitation Abnormality of the hair Hepatic fibrosis Chronic diarrhea Depressed nasal ridge Fine hair Premature birth Iron deficiency anemia Bifid uvula Sepsis Wide nose Hepatic failure Cirrhosis Dry skin Sparse hair Abnormality of the liver Wide mouth Jaundice Abnormality of the immune system Thrombocytosis Hypertrophic cardiomyopathy Renal cortical microcysts Mandibular prognathia Hyperkeratosis Intellectual disability, mild Sensorineural hearing impairment Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Increased serum iron Woolly hair Abnormality of the ear Secretory diarrhea Intractable diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Abnormality of the pancreas Villous atrophy Large forehead External genital hypoplasia Dysphagia Decreased fertility Synophrys Sloping forehead Convex nasal ridge Prominent nose Dental malocclusion Tapered finger Single transverse palmar crease Thick eyebrow Talipes Facial asymmetry Leukemia Dental crowding Hyperlordosis Intellectual disability, moderate Pes planus Hyperactivity Upslanted palpebral fissure Pes cavus Kyphosis Laryngeal hypoplasia Bronchomalacia Anotia Hypoplasia of dental enamel Narrow face Endocardial fibroelastosis Abnormal cortical gyration Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Selective tooth agenesis Acute monocytic leukemia 11 pairs of ribs Abnormally large globe Elbow flexion contracture Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Proportionate short stature Dislocated radial head Acute myeloid leukemia Myeloid leukemia Clitoral hypertrophy Sandal gap Narrow palate Extramedullary hematopoiesis Entropion Freckling Abnormality of the pulmonary artery Vomiting Cardiomyopathy Osteoporosis Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Multiple lentigines Excessive wrinkled skin Abnormal localization of kidney Syndactyly Abnormal aortic valve morphology Shield chest Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Wolff-Parkinson-White syndrome Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Neuroblastoma Multiple cafe-au-lait spots Short nose Telecanthus Abnormality of the larynx Sparse eyelashes Cleft soft palate Tracheal stenosis Pierre-Robin sequence Tracheomalacia Anteriorly placed anus Hypoplastic left heart Neonatal respiratory distress Proximal placement of thumb Microretrognathia Narrow palpebral fissure Narrow chest Wide anterior fontanel Large fontanelles Short palpebral fissure Small nail Full cheeks Abdominal distention Postural instability Downturned corners of mouth Hirsutism Short palm Narrow mouth Bradycardia Prominent forehead Hyperbilirubinemia Ureteral duplication Prolonged partial thromboplastin time Mild microcephaly Single umbilical artery Exocrine pancreatic insufficiency Congenital hypothyroidism Glycosuria Hyperglycemia Cardiac arrest Cervical ribs Hepatitis Gliosis Umbilical hernia Diabetes mellitus Cerebral atrophy Hypertension Feeding difficulties Absence of the pulmonary valve Tetralogy of Fallot with absent pulmonary valve Perimembranous ventricular septal defect Pancreatic hypoplasia Endocarditis Total absence of the pericardium Abnormal lung morphology Renal hypoplasia Intellectual disability, profound Coarctation of aorta Bilateral sensorineural hearing impairment Vesicoureteral reflux Protruding ear Camptodactyly Hydronephrosis Colon perforation Microcolon Congenital defect of the pericardium Hypoplastic tricuspid valve Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Neonatal insulin-dependent diabetes mellitus Pulmonary valve atresia Abnormal nasal morphology Optic nerve hypoplasia Anal atresia Complete atrioventricular canal defect Asplenia Choanal stenosis Polysplenia Abnormal lung lobation Dextrocardia Situs inversus totalis Ambiguous genitalia Adrenal gland agenesis Abdominal situs inversus Malrotation of small bowel Hypoplasia of the bladder Ovotestis Abnormality of the penis Abnormality of the adrenal glands Sex reversal Renal agenesis Oral cleft Cleft lip Anomalous pulmonary venous return Heterotaxy Right ventricular failure Sinusitis Breathing dysregulation Hyperventilation Poor appetite Polycythemia Preauricular pit Heart murmur Clubbing Easy fatigability Increased body weight Hemiparesis Total anomalous pulmonary venous return Ventricular hypertrophy Cyanosis Paralysis Dyspnea Recurrent respiratory infections Right atrial isomerism Bilateral trilobed lungs Left atrial isomerism Common atrium Horseshoe kidney Anophthalmia Thrombocytopenia Aplasia/Hypoplasia of the corpus callosum Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Hypoplasia of the brainstem Congenital muscular dystrophy Plagiocephaly Spinal rigidity Lissencephaly Holoprosencephaly Knee flexion contracture Hemivertebrae EMG abnormality Congenital hip dislocation Preauricular skin tag Encephalocele Brain atrophy Cortical dysplasia Weak cry Abnormal cerebellum morphology Hypoglycosylation of alpha-dystroglycan Immunodeficiency Long philtrum Diarrhea Edema Frontal bossing Hepatomegaly Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Agyria Atrophy/Degeneration affecting the brainstem Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Myocardial fibrosis Retinal dysplasia Ankle contracture Anencephaly Generalized muscle weakness Retinal detachment Rocker bottom foot Renal malrotation Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Mild intrauterine growth retardation Right aortic arch with mirror image branching Pulmonary artery hypoplasia Pelvic kidney Visual impairment Annular pancreas Abnormality of the diaphragm Duodenal stenosis Diaphragmatic eventration Bilateral microphthalmos Bicornuate uterus Abnormality of the uterus Hiatus hernia Hypoplasia of the uterus Cataract Motor delay Polymicrogyria EEG abnormality Congenital cataract Hypermetropia Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Dilated cardiomyopathy Muscular dystrophy Camptodactyly of finger Apnea Rigidity Glaucoma Myopia Elevated serum creatine phosphokinase Areflexia Myopathy Intellectual disability, severe Ventriculomegaly Gait disturbance Macrocephaly Optic atrophy Skeletal muscle atrophy Hypoplasia of proximal fibula



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