Cardiomyopathy, and Platyspondyly

Diseases related with Cardiomyopathy and Platyspondyly

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

Top matches:

Other less relevant matches:

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Platyspondyly

Symptoms // Phenotype	% cases
Short neck	Very Common - Between 80% and 100% cases
Intellectual disability	Common - Between 50% and 80% cases
Global developmental delay	Common - Between 50% and 80% cases
Hearing impairment	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Coarse facial features

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Recurrent infections Diarrhea Dysostosis multiplex Short stature Anteverted nares Splenomegaly Hepatomegaly Abnormal facial shape Hypertelorism Motor delay Scoliosis Joint stiffness Macrocephaly Coarse hair Abnormality of the skeletal system Kyphosis Flexion contracture Behavioral abnormality Heparan sulfate excretion in urine Hyperactivity Cognitive impairment Generalized hypotonia Thick eyebrow Osteopenia Broad ribs Inguinal hernia Thickened calvaria Hirsutism Corneal opacity Recurrent upper respiratory tract infections Hernia Respiratory insufficiency Hypoplastic iliac wing Severe short stature Abnormal heart valve morphology Intellectual disability, mild Growth delay Hepatosplenomegaly Hypertrichosis Delayed skeletal maturation Skeletal dysplasia Macroglossia Lumbar hyperlordosis Umbilical hernia Wide mouth Gingival overgrowth Widely spaced teeth Thick lower lip vermilion Opacification of the corneal stroma Microcephaly Delayed speech and language development Sleep disturbance Low-set ears Intrauterine growth retardation Astigmatism Prominent forehead Hypertrophic cardiomyopathy Abnormality of the ribs Ascites Cardiomegaly Hydrops fetalis Short ribs Hypertension Synophrys Recurrent respiratory infections Thickened ribs Ataxia

Rare Symptoms - Less than 30% cases

Scarring Mandibular prognathia Progressive neurologic deterioration Chronic diarrhea Cataract Muscular hypotonia Visceromegaly Arrhythmia Flared iliac wings Abnormality of epiphysis morphology Thin upper lip vermilion Edema Kyphoscoliosis Cerebellar atrophy Dementia Pneumonia Spasticity Dermatan sulfate excretion in urine Headache Abnormality of the dentition Microdontia Postnatal growth retardation Gliosis Abnormal lung morphology Narrow greater sacrosciatic notches Spinal cord compression Thoracic kyphosis Hyperactive deep tendon reflexes Protuberant abdomen Spondyloepiphyseal dysplasia Abnormal form of the vertebral bodies Developmental regression Intellectual disability, severe Nyctalopia Hyperlordosis Wide nose Hip dysplasia Limitation of joint mobility Gait disturbance Genu valgum Fine hair Pectus carinatum Respiratory tract infection J-shaped sella turcica Neutropenia Talipes equinovarus Congestive heart failure Strabismus Thickened skin Ovoid thoracolumbar vertebrae Short toe Unilateral cleft lip Asymmetric septal hypertrophy Aortic valve stenosis Growth abnormality Long philtrum Flared metaphysis Patent ductus arteriosus Short long bone Conductive hearing impairment Narrow chest Thick vermilion border Cone-shaped epiphysis Abnormality of the metaphysis Thoracic hypoplasia Pleural effusion Constipation Cerebellar hypoplasia Micrognathia Cleft palate Wide nasal bridge Ventricular septal defect Ventriculomegaly Short nose Hypospadias Posteriorly rotated ears Hypermetropia Brachycephaly Polyhydramnios Hydronephrosis Cleft lip Small for gestational age Short palm Webbed neck Limb undergrowth Respiratory failure Epicanthus Accelerated skeletal maturation Pericardial effusion Arthropathy Short finger Sensorineural hearing impairment Brachydactyly Coxa valga Generalized hirsutism Ovoid vertebral bodies Tracheal stenosis Abnormal vertebral morphology Abnormality of retinal pigmentation Lower limb spasticity Peptic ulcer Recurrent otitis media Progressive visual loss Specific learning disability Constrictive pericarditis Otitis media Asthma Keratoconus Congenital hip dislocation Abnormality of the cardiovascular system Femoral hernia Abnormal joint morphology Coarctation of aorta Elbow flexion contracture Abnormality of the metacarpal bones Knee flexion contracture Abnormality of dental morphology Exertional dyspnea Restrictive ventilatory defect Chronic constipation Multiple joint contractures Oligomenorrhea Irregular vertebral endplates Toe walking Submucous cleft hard palate Heart murmur Abnormality of dental enamel Wheezing Chronic otitis media Pericarditis Constrictive median neuropathy Back pain Easy fatigability Increased intracranial pressure Arnold-Chiari malformation Vertebral fusion High hypermetropia Lower limb muscle weakness Short palpebral fissure Esophageal stenosis Precocious puberty Retrognathia Proptosis Hyperkeratosis Glaucoma Abdominal pain Pes cavus Visual impairment Hypoplasia of eyelid Radial deviation of finger Abnormality of the voice Gingival cleft Large iliac wings Enlarged vertebral pedicles Pear-shaped nose Stridor Laryngotracheal stenosis Oral-pharyngeal dysphagia Generalized muscle hypertrophy Pseudopapilledema Stiff skin Retinal degeneration Dolichocephaly Choanal atresia Abnormality of the pubic bone Epispadias Limb muscle weakness Abnormality of the menstrual cycle Abnormal lip morphology Carious teeth Abnormality of the penis External genital hypoplasia Blurred vision Arthralgia 2-3 toe syndactyly Overlapping toe EMG abnormality Narrow palpebral fissure Abnormal pyramidal sign Camptodactyly of finger Skeletal muscle hypertrophy Craniosynostosis Restrictive cardiomyopathy Craniofacial hyperostosis Small abnormally formed scapulae Spinal canal stenosis Disproportionate short stature Metaphyseal chondrodysplasia Spondylometaphyseal dysplasia 11 pairs of ribs Myocarditis Flat acetabular roof Hyperphosphatemia Delayed epiphyseal ossification Cone-shaped epiphyses of the phalanges of the hand Cardiorespiratory arrest Heart block Turricephaly Metaphyseal dysplasia Cortical gyral simplification Porencephalic cyst Abnormality of neuronal migration Metaphyseal irregularity Redundant skin Systemic lupus erythematosus Poor suck Atrioventricular block Lissencephaly Hypocalcemia Rhizomelia Short phalanx of finger Pachygyria Short metacarpal Apnea Metaphyseal cupping Coronal cleft vertebrae Atrial septal defect Cerebral cortical atrophy Drooling Progressive hearing impairment Aggressive behavior Difficulty walking Absent speech Dysphagia Frontal bossing Dysarthria Dense calvaria Central nervous system degeneration Restlessness Limb ataxia Split hand 11 thoracic vertebrae Third degree atrioventricular block Horizontal inferior border of scapula Irregular tarsal bones Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Long fibula Pulmonary hemorrhage Cupped ribs Agenesis of corpus callosum Abnormality of the humeral epiphysis Rhinitis Shield chest Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Abnormal nerve conduction velocity Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Abnormal cornea morphology Myelopathy Nasal obstruction Sagittal craniosynostosis Hip subluxation Cor pulmonale Dilation of lateral ventricles Sparse pubic hair Sparse axillary hair Communicating hydrocephalus Hydrocele testis Abnormality of the ulna Diastasis recti Chronic sinusitis Obstructive sleep apnea Papilledema Blepharitis Peripheral visual field loss Abnormality of the gingiva Mitral valve calcification Abnormality of the styloid process of ulna Abnormality of lysosomal metabolism 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 Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the sella turcica Abnormality of the skull base Posterior scalloping of vertebral bodies Short tubular bones of the hand Hernia of the abdominal wall Abnormality of the breast Dilated third ventricle Exercise-induced muscle stiffness Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Urinary glycosaminoglycan excretion Delayed menarche Amenorrhea Glomerulonephritis Bifid uvula Nonimmune hydrops fetalis Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Pseudoarthrosis Snoring Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Thoracolumbar kyphosis Pulmonary insufficiency Recurrent ear infections Thoracolumbar scoliosis Nystagmus Hypoplasia of the odontoid process Mild short stature Metatarsus adductus Pterygium Cardiac arrest Broad-based gait Spastic tetraplegia Tetraplegia Neurodegeneration Vertigo Facial asymmetry Poor speech Anterior beaking of lower thoracic vertebrae Hyperreflexia Muscular hypotonia of the trunk Mitral regurgitation Macroorchidism Beaking of vertebral bodies Palpebral edema Muscle fibrillation Pathologic fracture Emotional lability Acne Intellectual disability, progressive Hoarse voice Aspiration Involuntary movements Psychosis Blindness Overgrowth Neuronal loss in central nervous system Generalized myoclonic seizures Erythema Mental deterioration Joint laxity High forehead Gait ataxia Myoclonus Visual loss Abnormality of metabolism/homeostasis Cerebral atrophy Intellectual disability, moderate Abnormality of the nervous system Spondylolisthesis Beaded ribs Lymphedema Long eyelashes Low posterior hairline Ventricular hypertrophy Short distal phalanx of finger Finger syndactyly Anxiety Osteoporosis Decreased fibular diameter Fractured radius Multiple rib fractures Large fleshy ears Bicuspid aortic valve Multiple prenatal fractures Short femur Decreased skull ossification Single umbilical artery Adducted thumb Disproportionate short-limb short stature Wormian bones Recurrent fractures Pulmonary hypoplasia Flat face Telecanthus Micropenis Low anterior hairline Prominent supraorbital ridges Dyspnea Concentric hypertrophic cardiomyopathy Dilatation Hypertonia Hydrocephalus Widened posterior fossa Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Broad first metatarsal Cuboid-shaped vertebral bodies Bilateral coxa valga Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Curly eyelashes Pyloric stenosis Large sella turcica Deep plantar creases Generalized hypertrichosis Esodeviation Broad hallux phalanx Thick upper lip vermilion Short hallux Thin ribs Broad hallux Large for gestational age Metaphyseal widening Elevated alkaline phosphatase Broad face Abnormality of the ovary Progressive cerebellar ataxia Hypoplasia of the capital femoral epiphysis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Arteriosclerosis Lateral displacement of the femoral head Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Transient ischemic attack Abnormality of the vasculature Nephrosclerosis Cryptorchidism Multiple cafe-au-lait spots Camptodactyly Hypoplasia of the maxilla Thin vermilion border Oral cleft Prominent nasal bridge Short philtrum Cough Microtia Abnormal cardiac septum morphology Blepharophimosis Sparse hair Autistic behavior Deeply set eye Ptosis Autism Narrow mouth Hypogonadism Abnormal heart morphology Clinodactyly Obesity Abnormality of cardiovascular system morphology Midface retrusion Microphthalmia Syndactyly Malar flattening Respiratory distress Glomerulopathy Steatorrhea Vacuolated lymphocytes Fever Malabsorption Hip dislocation Stroke Autoimmunity Abnormality of the kidney Proteinuria Hypothyroidism Thrombocytopenia Immunodeficiency Renal insufficiency Vomiting Myopia Abnormality of skin pigmentation Anemia Aspartylglucosaminuria Angiofibromas Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Angiokeratoma Cranial asymmetry Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Stage 5 chronic kidney disease Bulbous nose Hypermelanotic macule Hyperlipidemia Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Reduced bone mineral density Azoospermia Atherosclerosis Nephropathy Bone marrow hypocellularity Lymphopenia Heterotopia Intellectual disability, profound Nephrotic syndrome Decreased testicular size Waddling gait Lymphoma Premature birth Migraine Brain atrophy Abnormal cerebellum morphology Cellular metachromasia

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