Congestive heart failure, and Spina bifida

Diseases related with Congestive heart failure and Spina bifida

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Spina bifida that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Low match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Low match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

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Other less relevant matches:

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Low match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Low match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Low match ALAGILLE SYNDROME 1; ALGS1


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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Spina bifida occulta Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Spina bifida. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dilatation

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Growth delay Cataract Myopia Seizures Global developmental delay Generalized hypotonia Umbilical hernia Muscular hypotonia Hypertension Glaucoma Hemivertebrae Short stature Finger syndactyly Broad forehead Hearing impairment Overgrowth Kyphoscoliosis Depressed nasal bridge Pectus excavatum Abnormality of cardiovascular system morphology Hernia Atrial septal defect Kyphosis Abnormality of the skeletal system Protruding ear Stroke Muscle weakness Cardiomyopathy Myopathy Abnormal facial shape Failure to thrive Conductive hearing impairment Hepatomegaly Downslanted palpebral fissures Retinal detachment Delayed eruption of teeth Sensorineural hearing impairment Esotropia Polyhydramnios Corneal dystrophy Hepatosplenomegaly Ventricular septal defect Abnormality of the kidney Pectus carinatum Intellectual disability, mild Vesicoureteral reflux Epicanthus Low-set ears Hypertelorism Intrauterine growth retardation Respiratory distress Respiratory tract infection Aortic root aneurysm Joint hypermobility Camptodactyly of finger Abnormality of the ribs Vertebral segmentation defect Hyperlordosis Cleft palate Meningocele Polydactyly Heart murmur Edema Abnormal vertebral morphology Talipes equinovarus Hypospadias

Rare Symptoms - Less than 30% cases


Large for gestational age Hirsutism Small nail Renal dysplasia Gingival overgrowth Unilateral renal agenesis Microcornea Bundle branch block Missing ribs Multicystic kidney dysplasia Pericardial effusion Flat face Abnormality of the genital system Mitral regurgitation Slender finger Gastrointestinal hemorrhage Tetralogy of Fallot Mitral valve prolapse Chest pain Triangular face Delayed puberty Disproportionate tall stature Aortic aneurysm Pulmonic stenosis Dental crowding Tall stature Joint contracture of the hand Short distal phalanx of finger Ectopic kidney Cognitive impairment Aortic dissection Retinopathy Abnormality of dental morphology Joint laxity Mandibular prognathia Telangiectasia of the skin Pes planus Lymphedema Dolichocephaly Prominent forehead Craniosynostosis Short philtrum Dural ectasia Supernumerary ribs Flexion contracture High palate Wide nasal bridge Visual impairment Polyneuropathy Keratoconus Gait disturbance Malabsorption Coarse facial features Macrotia Coronal craniosynostosis Abnormality of skin pigmentation Arachnodactyly Delayed skeletal maturation Hypodontia Patent ductus arteriosus Blue sclerae Splenomegaly Intellectual disability, severe Neonatal hypotonia Abnormal heart morphology Hyperkeratosis Motor delay Camptodactyly Syndactyly Eosinophilia Tachypnea Pulmonary arterial hypertension Generalized muscle weakness Exotropia Congenital cataract Osteopenia Acidosis Dyspnea Narrow palate Fatigue Abnormality of the intervertebral disk Retrognathia Abnormality of female internal genitalia Abnormality of the ureter Abnormality of immune system physiology Preaxial polydactyly Abnormality of the sternum Scapular winging Abnormal form of the vertebral bodies Congenital diaphragmatic hernia Low-set, posteriorly rotated ears Dilatation of the cerebral artery Recurrent respiratory infections Inguinal hernia Short neck Deeply set eye Hypertrophic cardiomyopathy Hydronephrosis Malar flattening Posteriorly rotated ears Alopecia Macrocephaly Arrhythmia Cavernous hemangioma Biliary atresia Pain Neoplasm Anal atresia Micrognathia Aortic regurgitation Visual loss Clinodactyly Preauricular skin tag Tethered cord Preaxial hand polydactyly Pulmonary hypoplasia Endocarditis Tricuspid valve prolapse Protrusio acetabuli Premature osteoarthritis Hypoplasia of penis Thoracic aortic aneurysm Hypopnea Ambiguous genitalia Flat cornea Hypertropia Ureteropelvic junction obstruction Abnormality of the pancreas Microspherophakia Atelectasis Abnormal sacrum morphology Renal agenesis Overbite Hypoplasia of the musculature Lower limb undergrowth Homocystinuria Vertebral clefting Hypoplasia of the radius Pneumothorax Laryngomalacia Radioulnar synostosis Laryngeal stenosis Duodenal atresia Intestinal malrotation Abnormality of the nasopharynx Ascending tubular aorta aneurysm Abnormality of the urethra Triphalangeal thumb Bifid scrotum Tracheoesophageal fistula Rectovaginal fistula Cystic medial necrosis Hydrocephalus Pneumonia Premature birth Increased axial length of the globe Incisional hernia Abnormal cardiac septum morphology Postnatal growth retardation Pulmonary artery dilatation Mitral annular calcification Medial rotation of the medial malleolus Facial asymmetry Inferior oblique muscle overaction Anemia Large fontanelles Right bundle branch block Dysphagia Dextrocardia Short thumb Recurrent urinary tract infections Hypoplastic left heart Tracheal stenosis Aplasia/Hypoplasia of the radius Spontaneous pneumothorax Low back pain Single umbilical artery Aplasia/Hypoplasia of the lungs Esophageal atresia Abnormality of the outer ear Tachycardia Absent radius Omphalocele Wheezing Situs inversus totalis Occipital encephalocele Transposition of the great arteries Non-midline cleft lip Overjet Choanal atresia Anisometropia Anencephaly Palpebral edema Anorectal anomaly Round face Portal hypertension Renal hypoplasia/aplasia Hypercholesterolemia Finger clinodactyly Pointed chin Cholestasis Hypertriglyceridemia Renal hypoplasia Nephrotic syndrome Coarctation of aorta Pigmentary retinopathy Specific learning disability Prominent nose Hypopigmentation of the skin Hypoplasia of the ulna Hepatic failure Cirrhosis Stage 5 chronic kidney disease Pruritus Scarring Abnormality of the liver Carcinoma Elevated hepatic transaminase Jaundice Brachycephaly Upslanted palpebral fissure Clinodactyly of the 5th finger Areflexia Renal insufficiency Glomerulosclerosis Malnutrition Pleural lymphangiectasia Hypopigmentation of the fundus Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Fat malabsorption Chorioretinal atrophy Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Pulmonary artery stenosis Abnormality of the vasculature Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Renal tubular acidosis Prolonged neonatal jaundice Long nose Frontal bossing Pericardial lymphangiectasia Absence of the sacrum Narrow chest Hypocalcemia Bilateral single transverse palmar creases Lymphopenia Hydrops fetalis Pachygyria Decreased antibody level in blood Ascites Short foot Small hand Short palm Lymphadenopathy Smooth philtrum Abnormality of the foot Microtia Abnormal intestine morphology Intellectual disability, moderate Hypothyroidism Narrow mouth Hyperactivity Midface retrusion Abnormality of the dentition Diarrhea Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Horseshoe kidney Cutaneous syndactyly Thyroid lymphangiectasia Generalized edema Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Intestinal lymphangiectasia Abnormal oral mucosa morphology Primary hypothyroidism Chylothorax Rectal prolapse Periorbital edema Protein-losing enteropathy Hypoproteinemia Oligodontia Sparse axillary hair Nonimmune hydrops fetalis Arteriovenous malformation Hypoplastic iliac wing Edema of the lower limbs Polysplenia External ear malformation Spondylolisthesis Increased number of teeth Cutaneous finger syndactyly Pleural effusion Hypoalbuminemia Pyloric stenosis Reduced number of teeth Pulmonary edema Thick eyebrow Genu recurvatum Subvalvular aortic stenosis Microphthalmia Spasticity Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Abnormal aortic valve morphology Cerebral cortical atrophy Abnormal mitral valve morphology Hyposmia Angina pectoris Heart block Multiple cafe-au-lait spots Severe hearing impairment Bilateral cryptorchidism Cubitus valgus Pterygium Mutism Aortic valve stenosis Cafe-au-lait spot Hyperhidrosis Erythema Myocardial infarction Hemiplegia/hemiparesis Asymmetric growth Deviation of finger Cerebral ischemia Verrucae Hypoplastic fingernail Dystrophic toenail Abnormal toenail morphology Hearing abnormality Uveitis Irregular hyperpigmentation Supernumerary nipple Keratitis Skin rash Encephalitis Hypopigmented skin patches Osteolysis Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Skin ulcer Abnormal blistering of the skin Oral cleft Corneal opacity Attention deficit hyperactivity disorder Depressed nasal ridge Webbed neck Absent hand Urogenital fistula Lactic acidosis Feeding difficulties in infancy Mental deterioration Cerebellar hypoplasia Thrombocytopenia Headache Nystagmus Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Anomalous pulmonary venous return Aciduria Rib fusion Disproportionate short-trunk short stature Double outlet right ventricle Prominent occiput Short thorax Abnormality of the urinary system Confusion Respiratory failure Severe short stature Long philtrum Anteverted nares Microcephaly Increased serum lactate Hemiparesis Syncope 3-Methylglutaconic aciduria Micropenis Depressivity Delayed speech and language development Ptosis Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination Skeletal myopathy Cardiac arrest Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Recurrent upper respiratory tract infections Easy fatigability Ragged-red muscle fibers Exercise intolerance Retinal hemorrhage Abnormal chorioretinal morphology Thoracic kyphosis Generalized hypertrichosis Long face Peripheral axonal neuropathy Apnea Gastroesophageal reflux Pes cavus Peripheral neuropathy Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Hyperextensibility of the finger joints Dental malocclusion Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Anonychia Metaphyseal widening Growth abnormality Hemangioma Accelerated skeletal maturation High, narrow palate Abnormality of the cardiovascular system Generalized hirsutism Rocker bottom foot Obstructive sleep apnea Arachnoid cyst Hypoplasia of the iris Subarachnoid hemorrhage Megalocornea Striae distensae Reduced subcutaneous adipose tissue Restrictive ventilatory defect Decreased muscle mass Open bite Emphysema Epiphora Cardiomegaly Hammertoe Congenital contracture Ectopia lentis Redundant skin Back pain Sleep apnea Spontaneous abortion Elbow flexion contracture Narrow face Amblyopia Decreased body weight Abnormal lung morphology Intellectual disability, progressive Thickened skin Ridged fingernail Oligohydramnios Intracranial hemorrhage Hyperextensible skin Torticollis Joint dislocation Hyperbilirubinemia Increased body weight Recurrent pneumonia Insulin resistance Thin skin High myopia Decreased fetal movement Sepsis Abnormality of the hip bone Abnormal bleeding Single transverse palmar crease Bruising susceptibility Unsteady gait Talipes Joint hyperflexibility Osteoporosis Abnormality of metabolism/homeostasis Blindness Retinal vascular proliferation Broad nail Abnormal hand morphology Atrophic scars Soft skin Nephrolithiasis Molluscoid pseudotumors Hypertrichosis Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Macroglossia Thick vermilion border Bulbous nose Synophrys Wide mouth Brachydactyly Progressive congenital scoliosis Spontaneous rupture of the globe Arterial rupture Atypical scarring of skin Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Butterfly vertebral arch



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