Cardiomyopathy, and Spina bifida

Diseases related with Cardiomyopathy and Spina bifida

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


Top matches:

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 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

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 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 NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Low match ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY Is also known as adult-onset cpeo with mitochondrial myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY

Low match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Strabismus Abnormality of the skeletal system Short stature Growth delay Hearing impairment Muscular hypotonia Global developmental delay Cafe-au-lait spot Ptosis Multiple cafe-au-lait spots Congestive heart failure Visual impairment Abnormality of cardiovascular system morphology Hypertelorism Neoplasm Respiratory insufficiency Sensorineural hearing impairment Cryptorchidism Cognitive impairment Wide nasal bridge Short neck Intellectual disability, mild Abnormality of the genital system Hypospadias Hepatomegaly Overgrowth Abnormal heart morphology Epicanthus Aganglionic megacolon Abnormal facial shape Abnormal aortic valve morphology Lymphoma Posteriorly rotated ears Spina bifida occulta Leukemia Tetralogy of Fallot Pulmonic stenosis Pectus carinatum Mandibular prognathia Malabsorption Arrhythmia Thrombocytopenia Myopia Fatigue Anemia Nystagmus Headache Failure to thrive Generalized hypotonia Cataract

Rare Symptoms - Less than 30% cases


Umbilical hernia Glaucoma Myelodysplasia Macrotia Abnormality of skin pigmentation Scapular winging Overweight Visual loss Muscle weakness Depressivity Dyspnea Myocardial infarction Mitral valve prolapse Neutropenia Specific learning disability Webbed neck Facial asymmetry Diabetes mellitus Patent ductus arteriosus Bilateral cryptorchidism Aplastic anemia Abnormal cardiac septum morphology Multiple lentigines Abnormal localization of kidney Respiratory distress High palate Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature B-cell lymphoma Bundle branch block Cleft palate Macrocephaly Pain Delayed speech and language development Freckling Splenomegaly Gastrointestinal hemorrhage Thick vermilion border Triangular face Delayed puberty Joint hyperflexibility Joint hypermobility Metaphyseal widening Peripheral neuropathy Accelerated skeletal maturation Dysarthria Hydrocephalus Abnormality of retinal pigmentation Tibial bowing Hypoplasia of the ovary Squamous cell carcinoma Gingival overgrowth Depressed nasal ridge Hypoplastic anemia Reduced bone mineral density Right ventricular hypertrophy Weight loss Ataxia Protruding ear Low-set ears Abnormality of chromosome stability Hypopigmentation of the skin Osteopenia Mental deterioration Abnormality of the kidney Low-set, posteriorly rotated ears Neonatal hypotonia Carcinoma Hyperkeratosis Depressed nasal bridge Brachycephaly Delayed skeletal maturation Heart block Pectus excavatum Congenital cataract Alopecia Severe short stature Intrauterine growth retardation Kyphoscoliosis Numerous nevi Abnormally ossified vertebrae Abnormal bone ossification Abnormal T cell morphology Neonatal short-limb short stature Micrognathia Abnormality of the distal phalanx of finger Frontal bossing Microcephaly Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Hyperreflexia Severe T-cell immunodeficiency Fever Ventriculomegaly Hypogonadism Atrial septal defect Renal insufficiency Microphthalmia Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Clinodactyly of the 5th finger Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Congenital hypoplastic anemia Hodgkin lymphoma Spinal dysraphism Rhizomelia Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Sparse eyelashes Hypocalcemia Short ribs Lymphopenia Sparse and thin eyebrow Abnormality of epiphysis morphology Cone-shaped epiphysis Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Fine hair Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Decreased antibody level in blood Postural instability Small hand Short palm Portal hypertension Short thorax Large face Fair hair Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Abnormality of the pancreas Generalized joint laxity Tracheal stenosis Upper limb undergrowth Mesomelia Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Limited elbow extension Femoral bowing Upslanted palpebral fissure Triphalangeal thumb Proptosis Clubbing of toes Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Partial duplication of thumb phalanx Abnormality of the preputium Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Pyridoxine-responsive sideroblastic anemia Spasticity Bicornuate uterus Sensory neuropathy Vitamin E deficiency Abetalipoproteinemia Xanthelasma Increased LDL cholesterol concentration Fat malabsorption Spinocerebellar tract degeneration Abnormality of visual evoked potentials Steatorrhea Hemiplegia/hemiparesis Dysdiadochokinesis Slurred speech Hypercholesterolemia Hypertriglyceridemia Dysmetria Skeletal muscle atrophy Lower limb muscle weakness Neurological speech impairment Nyctalopia Abnormal pyramidal sign Developmental regression Abnormality of the nervous system Rod-cone dystrophy Pes cavus Areflexia Dystonia Hypertonia Gait disturbance Tremor Abnormality of femur morphology Abnormality of the thumb Hypothyroidism Bruising susceptibility Hypergonadotropic hypogonadism Abnormal vertebral morphology Insulin resistance Short thumb Telangiectasia Recurrent urinary tract infections Choanal atresia Short palpebral fissure Pancytopenia Oligohydramnios Sloping forehead Renal agenesis Vertigo Horseshoe kidney Astigmatism Anal atresia Abnormality of the foot Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Small for gestational age Abnormality of the liver Postnatal growth retardation Irritability Abnormality of the eye Pes planus Bone marrow hypocellularity Type I diabetes mellitus Abnormality of the testis Myeloid leukemia Abnormality of the uterus Abnormality of the upper limb Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Absent thumb Leukopenia Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Narrow chest Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Micromelia Gangrene Hypotrichosis Mutism Delayed menarche Parietal bossing Limited elbow movement Subvalvular aortic stenosis Hyposmia Angina pectoris Missing ribs Severe hearing impairment Unilateral renal agenesis Cubitus valgus Pterygium Aortic valve stenosis Coronary artery aneurysm Mitral regurgitation Syncope Chest pain Conductive hearing impairment Micropenis Kyphosis Abnormal pulmonary valve morphology Abnormal endocardium morphology Excessive wrinkled skin Abnormality of the pulmonary artery Shield chest Third degree atrioventricular block Aplasia of the ovary Wolff-Parkinson-White syndrome Hirsutism Hemivertebrae Generalized hirsutism Thickened skin Nephrolithiasis Hypertrichosis Thick lower lip vermilion Small nail Intellectual disability, profound Bilateral sensorineural hearing impairment Macroglossia Delayed eruption of teeth Short distal phalanx of finger Brachydactyly Thick eyebrow Bulbous nose Synophrys Broad forehead Wide mouth Hepatosplenomegaly Coarse facial features Polyhydramnios Polydactyly Hernia Intellectual disability, severe Downslanted palpebral fissures Redundant neck skin Premature skin wrinkling Hemangioma Cardiac arrest Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Recurrent upper respiratory tract infections Easy fatigability Eosinophilia Ragged-red muscle fibers Tachypnea Corneal dystrophy Exercise intolerance Hemiparesis Meningocele Pulmonary arterial hypertension Esotropia Aciduria Increased serum lactate Generalized muscle weakness Lactic acidosis Stroke Feeding difficulties in infancy Acidosis Cerebellar hypoplasia Myopathy Motor delay Mitochondrial myopathy Cardiorespiratory arrest Sprengel anomaly Left ventricular hypertrophy Severe sensorineural hearing impairment Curly hair Neuroblastoma Atrioventricular canal defect Decreased fertility Abnormality of the ear External genital hypoplasia Melanocytic nevus Abnormality of the voice Hyperextensible skin Melanoma Subcutaneous nodule Organic aciduria Abnormality of the face Nevus 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 3-Methylglutaconic aciduria Skeletal myopathy Intellectual disability, progressive Growth abnormality Arthrogryposis multiplex congenita Renal phosphate wasting Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Schwannoma Renovascular hypertension Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Renal artery stenosis Axillary freckling Myocardial fibrosis Anteverted nares Sparse hair Hyperlordosis Joint laxity EEG abnormality Skeletal dysplasia Prominent forehead Pneumonia Constipation Recurrent infections Immunodeficiency Diarrhea Brow ptosis Embryonal rhabdomyosarcoma Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Brain neoplasm Neoplasm of the endocrine system Large for gestational age Generalized hypertrichosis Hypoglycemia Autism Hyperactivity Osteoporosis Behavioral abnormality Blindness Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Biliary atresia Paralysis Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Anonychia Autistic behavior Attention deficit hyperactivity disorder Meningioma Sarcoma Increased reactive oxygen species production Severe vision loss Renal cell carcinoma Osteomalacia Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Incoordination Pruritus Breast carcinoma Venous thrombosis Atherosclerosis Sensorimotor neuropathy Bone pain Hypsarrhythmia Coarctation of aorta Abnormality of the cardiovascular system Recurrent fractures Peripheral axonal neuropathy Paresthesia Genu valgum Tendon xanthomatosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Limb undergrowth, related diseases and genetic alterations Ventricular septal defect and Tetralogy of Fallot, related diseases and genetic alterations Fever and Irritability, related diseases and genetic alterations Obesity and Hirsutism, related diseases and genetic alterations

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