Cardiomyopathy, and Anal atresia

Diseases related with Cardiomyopathy and Anal atresia

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


Top matches:

Medium match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Medium match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Medium 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

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Other less relevant matches:

Medium match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

Low 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

Low match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Low match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Low match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Low match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM


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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Anal atresia

Symptoms // Phenotype % cases
Atrial septal defect Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Anal atresia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Abnormal cardiac septum morphology Abnormality of cardiovascular system morphology Cryptorchidism Growth delay Global developmental delay Hearing impairment Abnormal facial shape Hydronephrosis Anemia Microcephaly Hypospadias Intrauterine growth retardation Respiratory distress Cleft palate Micropenis Hypertelorism Hypothyroidism Diabetes mellitus Abnormality of the liver Sensorineural hearing impairment Ambiguous genitalia Dilated cardiomyopathy Hypopigmented skin patches Congestive heart failure Renal insufficiency Hypertrophic cardiomyopathy Short nose Fatigue Cataract Cafe-au-lait spot Hepatomegaly Hypogonadism Situs inversus totalis Severe short stature Agenesis of corpus callosum Micrognathia Intestinal malrotation Hydroureter

Rare Symptoms - Less than 30% cases


Hypoplasia of penis Small for gestational age Bifid scrotum Postnatal growth retardation Hypoplasia of the maxilla Malabsorption Blindness Posteriorly rotated ears Joint laxity Feeding difficulties Upslanted palpebral fissure Clinodactyly of the 5th finger Delayed skeletal maturation Pulmonary hypoplasia Hypertension Carious teeth Cognitive impairment Tetralogy of Fallot Muscular hypotonia Strabismus Urogenital sinus anomaly Pointed chin Tracheoesophageal fistula Flexion contracture Abnormality of the skeletal system Oligohydramnios Vertigo Abnormality of the genital system Aganglionic megacolon Finger syndactyly Short thumb Abnormality of the eye Bone marrow hypocellularity Weight loss Patent ductus arteriosus Type I diabetes mellitus Headache Ventriculomegaly Fever Low-set ears Hyperreflexia Visual impairment High palate Ptosis Neoplasm Nystagmus Ataxia Scoliosis Renal hypoplasia/aplasia Mandibular aplasia Absent thumb Chromosome breakage Dextrocardia Cystic renal dysplasia Seizures Abnormality of the dentition Constipation Dyspnea Aphasia Dysphasia Pigmentary retinopathy Specific learning disability Hypopigmentation of the skin Anteriorly placed anus Abnormality of skin pigmentation Male pseudohermaphroditism Clitoral hypertrophy Abnormal eyelid morphology Status epilepticus Retrognathia Abnormality of the testis Erythema Abnormality of retinal pigmentation Microphthalmia Abnormality of metabolism/homeostasis Abnormality of the nail Hydrocephalus Mutism Arrhythmia Visual loss Basal ganglia calcification Heart block Hypoparathyroidism Abnormality of immune system physiology Glomerulopathy Progressive sensorineural hearing impairment Xerostomia Progressive external ophthalmoplegia Posterior subcapsular cataract Mitochondrial myopathy Neonatal hypoglycemia Abnormal cerebellum morphology Vitiligo Primary adrenal insufficiency Abnormality of visual evoked potentials Hashimoto thyroiditis Hyperthyroidism Rhabdomyolysis Generalized myoclonic seizures Atopic dermatitis Thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Cardiac arrest Coma Transient ischemic attack Facial diplegia Gait imbalance Delayed puberty Reduced consciousness/confusion Cerebral ischemia Dysmetria Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Paresthesia Confusion Muscle cramps Ichthyosis Peripheral axonal neuropathy Lactic acidosis Nausea Cardiorespiratory arrest Polymicrogyria Delusions Hirsutism Nephropathy Polyneuropathy Multiple lipomas Postural instability Vertebral fusion Sensory impairment Prolonged QT interval Hyperkinesis Atrial fibrillation Hemiparesis Nausea and vomiting Cachexia Atrioventricular block Hypertrichosis Involuntary movements Decreased body weight Left ventricular hypertrophy Anorexia Gingival overgrowth Chronic kidney disease Growth abnormality Easy fatigability Goiter Psychosis Macular degeneration EMG abnormality Generalized hirsutism Hypogonadotrophic hypogonadism Exercise intolerance Clonus Purpura Pancreatitis Schizophrenia Cerebral visual impairment External ophthalmoplegia Reduced tendon reflexes Hallucinations Ragged-red muscle fibers Ischemic stroke Ventricular hypertrophy Decreased nerve conduction velocity Visual field defect Adrenal insufficiency Hemiplegia/hemiparesis Hip dysplasia Focal segmental glomerulosclerosis Abnormality of neuronal migration Memory impairment Overlapping toe Bundle branch block Aplasia/Hypoplasia of the cerebellum Increased serum lactate Migraine Vestibular dysfunction Truncal ataxia Hyperkalemia Sudden cardiac death Mask-like facies Amenorrhea Pulmonary arterial hypertension Hemiplegia Type II diabetes mellitus Nephrotic syndrome Hypercalciuria Bilateral sensorineural hearing impairment Bilateral ptosis Generalized-onset seizure Abnormality of the cardiovascular system Intestinal obstruction Aortic aneurysm Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Cerebral calcification Personality changes Anterior hypopituitarism Cochlear malformation Stroke-like episode Rectal fistula Atresia of the external auditory canal Abnormality of the outer ear Holoprosencephaly Hypotelorism Conductive hearing impairment Polyhydramnios Narrow mouth Talipes equinovarus Downslanted palpebral fissures Urethral fistula Urethral atresia, male Absent penis Cloacal abnormality Incomplete male pseudohermaphroditism Fetal pyelectasis Tracheomalacia Perineal hypospadias Scrotal hypoplasia Abnormality of the voice Bilateral talipes equinovarus Decreased fertility Maternal diabetes Abnormality of the endocrine system Ambiguous genitalia, male Unilateral renal hypoplasia Bilateral renal agenesis Atrophy of the spinal cord Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Bilateral lung agenesis Transposition of the great arteries Microglossia Gynecomastia Thin skin Pectus excavatum Deeply set eye Camptodactyly Broad forehead Arachnodactyly Coarctation of aorta Dental crowding Hydrometrocolpos Finger clinodactyly Short chin Cutis marmorata Long nose Narrow nose Soft skin Glandular hypospadias Urethral stricture Stenosis of the external auditory canal Synotia Hyperplasia of the maxilla Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Aglossia Brachydactyly Ectopic anus Postaxial hand polydactyly Multicystic kidney dysplasia Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Abnormality of the hair Depressed nasal bridge Seborrheic dermatitis Abnormality of the cerebellar vermis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Crohn's disease Spontaneous hematomas Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Gastroparesis Leber optic atrophy Progressive night blindness Hemianopia Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Abnormality of the renal tubule Persistence of primary teeth Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Writer's cramp Ophthalmoplegia Cochlear degeneration Right atrial isomerism Abdominal situs inversus Polysplenia Choanal stenosis Asplenia Pulmonary artery atresia Complete atrioventricular canal defect Anomalous pulmonary venous return Heterotaxy Atrioventricular canal defect Total anomalous pulmonary venous return Biliary atresia Common atrium Single ventricle Left atrial isomerism Bilateral trilobed lungs Abnormal lung lobation Pulmonic stenosis Abnormal mitochondrial shape Morphological abnormality of the vestibule of the inner ear Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the inner ear Rectal atresia Prominent ear helix Stage 5 chronic kidney disease Renal cyst Hypoplasia of the radius Bilateral cryptorchidism External genital hypoplasia Congenital cataract Pyridoxine-responsive sideroblastic anemia Arthrogryposis multiplex congenita Microdontia Hypopituitarism Glycosuria Agenesis of permanent teeth Steatorrhea Congenital sensorineural hearing impairment Portal hypertension Abnormality of the genitourinary system Oligodontia Widely spaced teeth Severe muscular hypotonia Hyperbilirubinemia Hypocalcemia Cholestasis Sparse scalp hair Convex nasal ridge Facial cleft Growth hormone deficiency Underdeveloped nasal alae Generalized muscle weakness Abdominal distention Delayed eruption of teeth Single transverse palmar crease Downturned corners of mouth Hepatic failure Hypotrichosis Cleft lip Elevated hepatic transaminase Alopecia Dilatation Long philtrum Hypoplastic nipples Anal stenosis Edema Septate vagina Abnormality of the kidney Carcinoma Pes planus Umbilical hernia Proptosis Thrombocytopenia Frontal bossing Epicanthus Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Absent lacrimal punctum Exocrine pancreatic insufficiency Lacrimation abnormality Fair hair Calvarial skull defect Abnormal hair pattern Hypoproteinemia Rectovaginal fistula Abnormality of the pancreas Abnormal vagina morphology Increased VLDL cholesterol concentration Aplasia cutis congenita of scalp Skin dimples Frontal upsweep of hair Uterus didelphys Abnormality of the nares Colonic diverticula Intellectual disability, severe Generalized hypotonia Leukemia Congenital diaphragmatic hernia Hypoplasia of the uterus Albinism Preauricular pit Tricuspid regurgitation Ventricular fibrillation Anophthalmia Patent foramen ovale Dermal atrophy Sacral dimple Intellectual disability, progressive Abnormality of dental enamel Hyperpigmentation of the skin Amblyopia Mitral regurgitation Mitral valve prolapse Abnormality of the ear Blepharophimosis Wide nasal bridge Syndactyly Midface retrusion Hernia Glaucoma Respiratory failure Coloboma Retinal dystrophy Skin rash Corneal opacity Nail dystrophy Tachycardia Wide nose Iris coloboma Congenital glaucoma Aplasia/Hypoplasia of the skin Anal fistula Abnormality of the anus Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Overriding aorta Tricuspid valve prolapse Absent septum pellucidum Retinal dysplasia Aplasia cutis congenita Anencephaly Posterior embryotoxon Abnormal eyelash morphology Sclerocornea Ocular albinism Echolalia Abnormal nasolacrimal system morphology Supraventricular tachycardia Colpocephaly Periventricular leukomalacia Chordee Abnormality of earlobe Epispadias Irritability Hip dislocation Lethargy Dysarthria Kyphosis Dystonia Hypertonia Diarrhea Vomiting Cerebellar atrophy Myopathy Short neck Respiratory insufficiency Dysphagia Gait disturbance Tremor Optic atrophy Skeletal muscle atrophy Peripheral neuropathy Depressivity Anemic pallor Hypoplastic anemia Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Deficient excision of UV-induced pyrimidine dimers in DNA Motor delay Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Abnormality of the preputium Muscle weakness Pain Cerebral atrophy Encephalopathy Decreased fertility in males Myalgia Generalized tonic-clonic seizures Pruritus Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Apnea Proteinuria Anxiety EEG abnormality Areflexia Osteoporosis Hyporeflexia Elevated serum creatine phosphokinase Cerebellar hypoplasia Rod-cone dystrophy Dementia Myoclonus Abdominal pain Photophobia Cerebral cortical atrophy Gait ataxia Autism Acidosis Gastroesophageal reflux Jaundice Chromosomal breakage induced by crosslinking agents Clubbing of toes Dolichocephaly Spina bifida Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Cranial nerve paralysis Azoospermia Leukopenia Horseshoe kidney Hypergonadotropic hypogonadism Abnormal vertebral morphology Myeloid leukemia Lymphoma Toe syndactyly Abnormality of the foot Facial asymmetry Astigmatism Bruising susceptibility Neutropenia Renal agenesis Insulin resistance Sloping forehead Pancytopenia Short palpebral fissure Choanal atresia Recurrent urinary tract infections Telangiectasia Ectopic kidney Multiple cafe-au-lait spots Partial duplication of thumb phalanx Abnormality of the hypothalamus-pituitary axis 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 Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Acute monocytic leukemia Acute myeloid leukemia Abnormality of the ulna Abnormality of blood and blood-forming tissues Absent radius Aplasia/Hypoplasia of the radius Irregular hyperpigmentation External ear malformation Hearing abnormality Arteriovenous malformation Abnormality of femur morphology B-cell lymphoma Abnormality of the upper limb Aplastic anemia Abnormality of the uterus Abnormality of the thumb Bicornuate uterus Narrow maxilla



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Ventricular hypertrophy, related diseases and genetic alterations Ventricular septal defect and Hypodontia, related diseases and genetic alterations Brachydactyly and Abnormality of cardiovascular system morphology, related diseases and genetic alterations Epicanthus and Retinoblastoma, related diseases and genetic alterations

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