Ventricular septal defect, and Telangiectasia

Diseases related with Ventricular septal defect and Telangiectasia

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Telangiectasia that can help you solving undiagnosed cases.

Top 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

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

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC SyndromeAlso see 3MC syndrome-2 (3MC2 ), caused by mutation in the COLEC11 gene (OMIM ), and 3MC syndrome-3 (3MC3 ), caused by mutation in the COLEC1 gene (OMIM ).

3MC SYNDROME 1; 3MC1 Is also known as michels syndrome, formerly|oculopalatoskeletal syndrome|craniosynostosis with lid anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 1; 3MC1

Other less relevant matches:

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013).For a discussion of genetic heterogeneity of Adams-Oliver syndrome (AOS), see AOS1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Microphthalmia
  • Patent ductus arteriosus
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 4; AOS4

Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Hypertension
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 6; AOS6

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

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

Low match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Telangiectasia

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Ventricular septal defect and Telangiectasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Cutis marmorata Abnormality of the kidney Generalized hypotonia Hypertelorism Abnormality of the skeletal system Coarctation of aorta Cognitive impairment Abnormal cardiac septum morphology Abnormal facial shape Epicanthus Dilatation Anal atresia Ascites Vesicoureteral reflux Tetralogy of Fallot Multicystic kidney dysplasia Short stature Aplasia cutis congenita Hearing impairment Portal hypertension Micrognathia Deeply set eye Broad forehead Brachydactyly Cutis marmorata telangiectatica congenita Intellectual disability, mild Hernia Conductive hearing impairment Cleft upper lip Intellectual disability Scoliosis Ventriculomegaly Hydrocephalus Syndactyly Microphthalmia Frontal bossing Hypertension Low-set ears Edema Hepatosplenomegaly Cutis laxa Hepatomegaly Depressed nasal bridge Hydronephrosis Cirrhosis

Rare Symptoms - Less than 30% cases

Finger clinodactyly Pointed chin Renal hypoplasia Growth hormone deficiency Alopecia Spina bifida occulta Supernumerary nipple Cataract Dental crowding Triangular face Oral cleft Coronal craniosynostosis Craniosynostosis Cortical dysplasia Pulmonic stenosis Short distal phalanx of finger Umbilical hernia Hypogonadism Clinodactyly of the 5th finger Gastrointestinal hemorrhage Oligohydramnios Hypertriglyceridemia Strabismus Long nose Splenomegaly Stroke Thrombocytopenia Telangiectasia of the skin Flexion contracture Camptodactyly Overgrowth Varicose veins Polymicrogyria Abnormality of the lower limb Arteriovenous malformation Toe syndactyly Finger syndactyly Leukemia Joint laxity Abnormal anterior chamber morphology Abnormality of the upper limb Hypothyroidism Abnormality of cardiovascular system morphology Short philtrum Arterial stenosis Downslanted palpebral fissures Wide nasal bridge Muscular hypotonia Neoplasm Seizures Exocrine pancreatic insufficiency Ptosis Hepatic fibrosis Postnatal growth retardation Cleft palate Decreased testicular size Retinopathy Esophageal varix Abnormality of the ureter Vertebral segmentation defect Aplasia cutis congenita of scalp Wide anterior fontanel Hemivertebrae Epistaxis Abnormality of the ribs Abnormality of the skin Malabsorption Intestinal malrotation Delayed skeletal maturation Pectus carinatum Constipation Pectus excavatum Clinodactyly Renal insufficiency Talipes equinovarus Hypoplastic toenails Cryptorchidism Calvarial skull defect Aplasia/Hypoplasia of the skin Pulmonary artery stenosis Oligodactyly Flat face Microcephaly Anemia Delayed puberty Myopia Pigmentary retinopathy Acidosis Brachycephaly Upslanted palpebral fissure Thyroid carcinoma Prominent forehead Renal dysplasia Round face Areflexia Prominent nose Visual loss Specific learning disability Abnormal form of the vertebral bodies Abnormal pupil morphology Vitamin D deficiency Cholestasis Peripheral arterial stenosis Peripheral pulmonary artery stenosis Fat malabsorption Foot oligodactyly Hypopigmentation of the fundus Nephrotic syndrome Butterfly vertebrae Congestive heart failure Biliary atresia Band keratopathy Papillary thyroid carcinoma Axenfeld anomaly Cholestatic liver disease Microcornea Hypodontia Carcinoma Corneal dystrophy Pruritus Renal hypoplasia/aplasia Stage 5 chronic kidney disease Scarring Abnormality of skin pigmentation Abnormality of the liver Abnormal vertebral morphology Glomerulosclerosis Protruding ear Heart murmur Hypoplasia of the ulna Malnutrition Chorioretinal atrophy Prolonged neonatal jaundice Intrahepatic cholestasis Keratoconus Hepatic failure Posterior embryotoxon Elevated hepatic transaminase Hepatocellular carcinoma Jaundice Coarse facial features Lymphedema Dilatation of the cerebral artery Hypopigmentation of the skin Macrotia Abnormality of the vasculature Exotropia Hypercholesterolemia Renal tubular acidosis Infra-orbital crease Renal artery stenosis Hallux valgus Enlarged kidney Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Leukocytosis Aspiration pneumonia Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Abnormal eyebrow morphology Communicating hydrocephalus Aspiration Generalized lymphadenopathy Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Corneal arcus Decreased serum testosterone level Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Hypergonadotropic hypogonadism Gynecomastia Multiple small medullary renal cysts Short chin Posteriorly rotated ears Severe short stature Pneumonia Anteverted nares Fever Hyperreflexia Sensorineural hearing impairment Truncus arteriosus Soft skin Narrow nose Abnormality of the genital system Hyperkeratosis Thin skin Arachnodactyly Carious teeth Short nose Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Diabetes mellitus Micropenis Hyperpigmentation of the skin Wide intermamillary distance Gingival overgrowth Bronchiectasis Primary amenorrhea Hypertrichosis Blue sclerae Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Amenorrhea Full cheeks Proptosis Recurrent fractures Polyneuropathy Ichthyosis Lymphadenopathy Abnormality of the foot Hypotrichosis Apnea Low-set, posteriorly rotated ears Pes planus Dyspnea Narrow maxilla Pachygyria Tricuspid regurgitation Small hand Broad foot Underdeveloped supraorbital ridges Radioulnar synostosis Sacral dimple Spina bifida Omphalocele Highly arched eyebrow Short foot Abnormality of eye movement Short 5th finger Blepharophimosis Cleft lip Muscular hypotonia of the trunk Telecanthus Abnormal bleeding Glaucoma Depressivity Asthma Bilateral cleft lip Diastasis recti Pancytopenia Macrocephaly Smooth philtrum Abnormality of the nervous system High forehead Polydactyly Arrhythmia Wide mouth Small for gestational age Synophrys Thin vermilion border Bilateral cleft lip and palate Abnormality of the occipital bone Single interphalangeal crease of fifth finger Skull asymmetry Caudal appendage Cranial asymmetry Epicanthus inversus Lambdoidal craniosynostosis Conjunctival telangiectasia Bilateral conductive hearing impairment Diarrhea Decreased liver function Postaxial polydactyly Clitoral hypertrophy Bilateral cryptorchidism Abnormality of the urinary system Deep philtrum Congenital hip dislocation Recurrent urinary tract infections Poor suck Patent foramen ovale Abdominal distention Dextrocardia Decreased fertility Hip dislocation Recurrent respiratory infections Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Abnormality of glutamine metabolism Increased serum bile acid concentration Hydroureter Xerostomia Hydrops fetalis Abnormality of the bladder Situs inversus totalis Aplasia of the musculature Aplasia of the abdominal wall musculature Dilatation of the bladder Congenital posterior urethral valve Fetal ascites Urethral obstruction Megacystis Prune belly Aplasia/Hypoplasia of the lungs Abdominal wall defect Cervical ribs Urethral stenosis Urogenital sinus anomaly Intestinal atresia Miosis Volvulus Abnormality of the uterus 11 pairs of ribs Joint hypermobility Thick vermilion border Absent distal phalanges Split hand Hypoplastic left heart Abnormality of the metacarpal bones Bicuspid aortic valve Leukopenia Meningitis Aortic valve stenosis Abnormality of the clitoris Encephalocele Hemiparesis Central hypotonia Small nail Pulmonary arterial hypertension Nail dysplasia Esotropia Premature birth Talipes Prominent nasal bridge Sparse hair Cutaneous finger syndactyly Double outlet right ventricle Osteopenia Absent toe Toenail dysplasia Anonychia Short toe Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Abnormal pulmonary valve morphology Hypoplastic fingernail Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Pulmonary artery atresia EEG abnormality Cerebellar hypoplasia Retinal detachment Nephroblastoma Severe failure to thrive Severe postnatal growth retardation Arnold-Chiari type I malformation Nevus flammeus Syringomyelia Multiple cafe-au-lait spots Abnormality of digit Large for gestational age Redundant skin Megalencephaly Reduced bone mineral density Arnold-Chiari malformation Ischemic stroke Hemangioma Cutaneous syndactyly Shock Purpura Postaxial hand polydactyly Nevus Capillary hemangioma Meningioma Hypertonia Capillary malformation Hypoplasia of the corpus callosum Blue nevus Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Facial hemangioma Short lower limbs Large earlobe Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Hemihypertrophy Seborrheic keratosis


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