Cardiomyopathy, and Camptodactyly
Diseases related with Cardiomyopathy and Camptodactyly
In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Camptodactyly that can help you solving undiagnosed cases.
Top matches:
Low match BETHLEM MYOPATHY 1; BTHLM1
BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures
Related symptoms:
- Generalized hypotonia
- Scoliosis
- Failure to thrive
- Muscle weakness
- Flexion contracture
More info about BETHLEM MYOPATHY 1; BTHLM1
Low match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms
Related symptoms:
- Scoliosis
- Low-set ears
- Downslanted palpebral fissures
- Cardiomyopathy
- Congestive heart failure
More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU
Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D
Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).
Related symptoms:
- Seizures
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Failure to thrive
SOURCES: ORPHANET OMIM MENDELIAN
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D
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Other less relevant matches:
Low match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1
A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010).
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1
Low match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ataxia
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHYLow 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 TYPELow match GM1-GANGLIOSIDOSIS, TYPE I
GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).
GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
SOURCES: ORPHANET OMIM MENDELIAN
More info about GM1-GANGLIOSIDOSIS, TYPE ILow match EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7
Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.
Related symptoms:
- Muscle weakness
- Flexion contracture
- Cardiomyopathy
- Arrhythmia
- Proximal muscle weakness
More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7
Low match MYHRE SYNDROME
Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.
MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about MYHRE SYNDROMELow match HURLER-SCHEIE SYNDROME
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Scoliosis
More info about HURLER-SCHEIE SYNDROME
Top 5 symptoms//phenotypes associated to Cardiomyopathy and Camptodactyly
| Symptoms // Phenotype | % cases |
|---|---|
| Flexion contracture | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Congestive heart failure | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Cardiomyopathy and Camptodactyly. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Low-set ears Camptodactyly of finger Retrognathia Hypertrophic cardiomyopathy Scoliosis Respiratory insufficiency Inguinal hernia Motor delay Cryptorchidism Congenital hip dislocation Strabismus Hypertelorism Microcephaly Abnormal facial shape Intellectual disability Hepatomegaly Muscular hypotonia Ataxia Cataract Short stature Failure to thrive Muscle weakness Respiratory distress Macrocephaly Recurrent respiratory infections Severe short stature Kyphosis Skeletal muscle hypertrophy Muscular dystrophy Short neck Hypermetropia Short philtrum Cardiomegaly Joint stiffness Intrauterine growth retardation Elevated serum creatine phosphokinase Hypospadias Respiratory failure Abnormality of the skeletal system Aortic valve stenosis Skeletal muscle atrophy Hypertension Neonatal hypotonia
Rare Symptoms - Less than 30% cases
Broad ribs Sensorineural hearing impairment Tremor Anteverted nares Long philtrum Tracheal stenosis Hypoplastic iliac wing Cerebellar atrophy Aciduria Growth delay 3-Methylglutaconic aciduria Hyperammonemia Oligohydramnios Increased serum lactate Lactic acidosis Pulmonic stenosis Prominent nasal bridge Wide mouth Acidosis Abnormal heart morphology Abnormality of cardiovascular system morphology Frontal bossing Micrognathia Arthropathy Thickened skin Arrhythmia Abnormality of the metaphysis Mandibular prognathia Skeletal dysplasia Coarse facial features Conductive hearing impairment Hepatosplenomegaly Corneal opacity Macroglossia Abnormal form of the vertebral bodies Astigmatism Abnormality of epiphysis morphology Generalized hirsutism Abnormal heart valve morphology Dysostosis multiplex Abnormal diaphysis morphology Constipation Thickened ribs Platyspondyly Splenomegaly Umbilical hernia Microphthalmia Small for gestational age Aplasia/Hypoplasia of the corpus callosum Encephalitis Hearing impairment Visual impairment Optic atrophy Gait disturbance Glaucoma Limitation of joint mobility Dilated cardiomyopathy Dolichocephaly Bradycardia EMG abnormality Abnormality of the ribs Multiple joint contractures Exaggerated startle response Depressed nasal bridge Knee flexion contracture Arthralgia Scarring Ventricular septal defect Synophrys Proximal muscle weakness Hip dislocation Pes cavus Ankle contracture Atrial septal defect Ventriculomegaly Progressive muscle weakness Wide nasal bridge Blepharophimosis Delayed speech and language development Downslanted palpebral fissures Abnormality of the voice Elbow flexion contracture Rigidity Kyphoscoliosis Hyperkeratosis Myopathy Macrotia Hernia Congenital muscular dystrophy Abnormality of the cardiovascular system Polymicrogyria Mask-like facies Wide nose Protruding ear Narrow palpebral fissure Bundle branch block Esophageal stenosis Constrictive pericarditis Pear-shaped nose Large iliac wings Genu valgum Abnormality of the penis Pseudopapilledema Stiff skin Abnormal lip morphology Unilateral cleft lip Lower limb muscle weakness Retinal degeneration Hirsutism Abnormality of the menstrual cycle Epispadias Femoral hernia Abnormality of the pubic bone Abdominal pain Generalized muscle hypertrophy Cognitive impairment Proptosis Headache Osteopenia Intellectual disability, mild Abnormality of the dentition Diarrhea Craniosynostosis Limb muscle weakness Abnormal pyramidal sign Hypoplasia of eyelid Nyctalopia Pectus carinatum Carious teeth Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Submucous cleft hard palate Peptic ulcer Specific learning disability Precocious puberty Short long bone Short toe Abnormal lung morphology Choanal atresia Short palpebral fissure Fine hair Coarctation of aorta Amenorrhea Stridor Paralysis Bifid uvula Progressive cerebellar ataxia Hypoplasia of the maxilla Short palm Thick eyebrow Thin vermilion border Oral cleft Cone-shaped epiphysis Oral-pharyngeal dysphagia Constrictive median neuropathy Keratoconus Craniofacial hyperostosis Restrictive cardiomyopathy Chronic constipation Oligomenorrhea Irregular vertebral endplates Sleep disturbance Wheezing Pericarditis Thickened calvaria Radial deviation of finger Abnormal joint morphology High hypermetropia Vertebral fusion Short finger Pericardial effusion External genital hypoplasia Blurred vision 2-3 toe syndactyly Overlapping toe Thick vermilion border Narrow naris Asthma J-shaped sella turcica Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Urinary glycosaminoglycan excretion Delayed menarche Hernia of the abdominal wall Heparan sulfate excretion in urine Mitral valve calcification Hip subluxation Abnormality of the acetabulum Abnormality of the gingiva Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Abnormal nerve conduction velocity Wide cranial sutures Platybasia Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Abnormal cornea morphology Abnormality of femoral epiphysis Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Increased size of nasopharyngeal adenoids Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormal metaphyseal trabeculation Limited shoulder movement Abnormality of the sella turcica Abnormality of the skull base Posterior scalloping of vertebral bodies Abnormality of lysosomal metabolism Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Exercise-induced muscle stiffness Abnormality of the tonsils Carpal bone hypoplasia Myelopathy Otitis media Opacification of the corneal stroma Heart murmur Chronic otitis media Back pain Coarse hair Easy fatigability Increased intracranial pressure Arnold-Chiari malformation Abnormality of the metacarpal bones Widely spaced teeth Abnormality of dental enamel Toe walking Coxa valga Short ribs Abnormal vertebral morphology Abnormality of retinal pigmentation Lower limb spasticity Distal muscle weakness Lumbar hyperlordosis Microdontia Progressive visual loss Hip dysplasia Abnormality of dental morphology Restrictive ventilatory defect Nasal obstruction Abnormality of the ulna Shield chest Sagittal craniosynostosis Flared iliac wings Cor pulmonale Dilation of lateral ventricles Sparse pubic hair Sparse axillary hair Communicating hydrocephalus Hydrocele testis Diastasis recti Exertional dyspnea Spinal cord compression Chronic sinusitis Obstructive sleep apnea Papilledema Blepharitis Peripheral visual field loss Protuberant abdomen Rhinitis Spinal canal stenosis Hyperactive deep tendon reflexes Recurrent otitis media Autism Cough Broad palm EEG abnormality Hallux valgus Brachycephaly Agenesis of corpus callosum Cerebellar hypoplasia Areflexia Pectus excavatum Dilatation Intellectual disability, severe Abnormality of the pinna Hydrocephalus Eclabion Limited elbow movement Brachyturricephaly Myopia Hyperplasia of the maxilla Camptodactyly of toe Abnormal pulmonary valve morphology Gastroparesis Apnea Prominent supraorbital ridges Moderate global developmental delay Preauricular skin tag Increased variability in muscle fiber diameter Hypoplasia of the brainstem Plagiocephaly Lissencephaly Holoprosencephaly Prominent nose Hemivertebrae Ventricular hypertrophy Mitral regurgitation Pachygyria Abnormality of the cerebral white matter Encephalocele Cerebellar vermis hypoplasia Brain atrophy Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Congenital cataract Joint contracture of the hand Arthrogryposis multiplex congenita Hyperalaninemia Abnormal aortic valve morphology Everted lower lip vermilion Focal-onset seizure Cardiac arrest Micropenis Renal hypoplasia Bulbous nose Metabolic acidosis Triangular face Sepsis Gliosis Convex nasal ridge Severe muscular hypotonia Sloping forehead Pointed chin Cutis laxa Focal impaired awareness seizure Right bundle branch block Feeding difficulties Disproportionate tall stature Entropion Cavum septum pellucidum Spontaneous abortion Pneumonia Flat occiput Marked muscular hypertrophy Progressive pes cavus Broad nail Leukoencephalopathy Microretrognathia Intention tremor Pulmonary arterial hypertension Interphalangeal joint contracture of finger Premature birth Flat face Abnormality of the kidney Rocker bottom foot Intellectual disability, moderate Pugilistic facies Cerebral cortical atrophy Dislocation of toes Encephalopathy Talipes equinovarus Hypoplasia of the corpus callosum Severe lactic acidosis Severe failure to thrive Calf muscle hypertrophy Generalized amyotrophy Microtia Angiokeratoma corporis diffusum Decreased fetal movement Proximal amyotrophy Neck muscle weakness Atrial fibrillation Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Cerebral degeneration Abnormality of the scrotum Cherry red spot of the macula Ptosis Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Psychomotor deterioration Torticollis Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Respiratory insufficiency due to muscle weakness Beaking of vertebral bodies Cleft palate Brachydactyly Limb-girdle muscular dystrophy Wide nasal base Abnormal cardiac septum morphology Sparse hair Autistic behavior Respiratory tract infection Postnatal growth retardation Cleft lip Papule Deeply set eye Thin upper lip vermilion Narrow mouth Behavioral abnormality Hyperactivity Hypogonadism Patent ductus arteriosus Clinodactyly Obesity Midface retrusion Recurrent infections Syndactyly Malar flattening Generalized dystonia Abnormality of the urinary system Cortical dysplasia Cerebellar cyst Hyperreflexia Spasticity Nystagmus Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Type II lissencephaly Dystonia Cerebellar dysplasia Buphthalmos Myocardial fibrosis Retinal dysplasia Anencephaly Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Spinal rigidity Blindness Difficulty walking Congenital contracture Abnormality of movement Gingival overgrowth Limb-girdle muscle weakness Hypertrichosis Depressed nasal ridge Abnormality of the skin Follicular hyperkeratosis Broad nasal tip Abdominal distention Neurodegeneration Abnormality of the mitochondrion Posteriorly rotated ears Diaphragmatic paralysis Hyperlordosis Developmental regression Congenital muscular torticollis Limb-girdle muscle atrophy Necrotizing myopathy Plantar flexion contractures Weight loss Dementia Abnormality of the humeral epiphysis
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