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:

Low match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Low match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Low match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

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Other less relevant matches:

Low match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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 SYNDROME

Low 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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

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
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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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Arachnodactyly, related diseases and genetic alterations Lymphoma and Finger syndactyly, related diseases and genetic alterations Hydrocephalus and Facial palsy, related diseases and genetic alterations Myopathy and Distal sensory impairment, related diseases and genetic alterations Spasticity and Thin vermilion border, related diseases and genetic alterations Macrocephaly and Hyperinsulinemia, related diseases and genetic alterations Flexion contracture and Inguinal hernia, related diseases and genetic alterations

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