Myopia, and Myalgia

Diseases related with Myopia and Myalgia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Other less relevant matches:

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Top 5 symptoms//phenotypes associated to Myopia and Myalgia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopia and Myalgia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Hearing impairment High myopia Seizures Pain Pes planus Arthralgia Platyspondyly Cleft palate Kyphosis Muscle weakness Chorea Feeding difficulties Short stature Dystonia Hyporeflexia Unsteady gait Abnormality of epiphysis morphology Myopathy Hip dysplasia Retinal detachment Visual impairment Difficulty walking Osteoarthritis Cerebral atrophy Gait disturbance Visual loss Pectus excavatum

Rare Symptoms - Less than 30% cases

Skeletal dysplasia Absent speech Hyperlordosis Elevated hepatic transaminase Hyperkeratosis Constipation Elevated serum creatine phosphokinase Behavioral abnormality Cerebellar atrophy Depressivity Attention deficit hyperactivity disorder Fatigue Tremor Coxa valga Hepatomegaly Motor delay Delayed speech and language development Decreased testicular size Abnormality of the liver Genu valgum Generalized tonic-clonic seizures Hypertelorism Irritability Joint stiffness Long philtrum Abnormal joint morphology Respiratory insufficiency Short neck Micrognathia Pectus carinatum Carious teeth Flexion contracture Pulmonary arterial hypertension Kyphoscoliosis Focal-onset seizure Increased number of teeth Waddling gait Hepatic steatosis Trismus Generalized hirsutism Poor speech Spasticity Infantile muscular hypotonia Conductive hearing impairment Growth delay Osteoporosis Inguinal hernia Pulmonic stenosis Joint hyperflexibility Abnormality of the dentition High palate Right ventricular dilatation Microcornea Progressive proximal muscle weakness Restrictive ventilatory defect Limb-girdle muscular dystrophy Mitral valve prolapse Umbilical hernia Ataxia Microcephaly Generalized hypotonia Truncal ataxia Bull's eye maculopathy Multinodular goiter Myocardial fibrosis Macular degeneration Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Vertical nystagmus Acute hepatic failure Acanthosis nigricans Chronic obstructive pulmonary disease Elevated serum creatinine Atherosclerosis Right ventricular hypertrophy Increased total bilirubin Frontal balding Hematemesis Attenuation of retinal blood vessels Tubulointerstitial nephritis Chronic fatigue Acute pancreatitis Chills Abnormal renal physiology Pyelonephritis Poor fine motor coordination Achromatopsia Urinary retention Arteriosclerosis Elevated C-reactive protein level Accelerated skeletal maturation Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Urethral stenosis Restrictive cardiomyopathy Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Pendular nystagmus Hepatic encephalopathy Decreased HDL cholesterol concentration Abnormality of female external genitalia Ovarian cyst High-frequency hearing impairment Esophageal varix Broad foot Gingivitis Chronic otitis media Polyphagia Precocious puberty Chorioretinal atrophy First degree atrioventricular block Hyperinsulinemia Pericardial effusion Lipodystrophy Abnormal retinal morphology Portal hypertension Polydipsia Nephritis Truncal obesity Urinary urgency Short finger Obsessive-compulsive behavior Hydroureter Pulmonary fibrosis Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Impaired vibratory sensation Acne Hyperostosis Hyperglycemia Diabetes insipidus Glucose intolerance Emphysema Polyuria Elevated alkaline phosphatase Cholelithiasis Hyperlipidemia Peripheral visual field loss Ketoacidosis Pancreatitis Hypercholesterolemia Tachypnea Posterior subcapsular cataract Oligomenorrhea Cone/cone-rod dystrophy Poor coordination Goiter Polycystic ovaries Hyperventilation Alopecia of scalp Retinal atrophy Agenesis of permanent teeth Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Abnormality of the hand Subcapsular cataract Hyperuricemia Bronchitis Glycosuria Glomerulopathy Progressive sensorineural hearing impairment Melena Abnormal retinal artery morphology Abnormality of the optic disc Emotional lability Muscular hypotonia of the trunk Intellectual disability, severe Dysphagia Head-banging Tryptophanuria Hypersexuality Stuttering Mood swings Generalized joint laxity Overweight Limited elbow extension Adducted thumb Abnormal pyramidal sign Interphalangeal joint contracture of finger Skin rash Camptodactyly of finger Intellectual disability, moderate Joint laxity Aggressive behavior Fever Abnormality of vertebral epiphysis morphology Abnormal vitreous humor morphology Hypoplasia of the maxilla Proptosis Short nose Developmental regression Severe global developmental delay Premature osteoarthritis Metaphyseal irregularity Hip pain Thoracolumbar kyphosis Stiff neck Hypoplastic ilia Hypoplastic pelvis Beaking of vertebral bodies Irregular vertebral endplates Spinal canal stenosis Vertebral fusion Flared metaphysis Spondyloepiphyseal dysplasia Back pain Small hand Short long bone Limb muscle weakness Brachydactyly Caudate atrophy Bruxism Central hypotonia Ankle clonus Focal impaired awareness seizure Spastic tetraparesis Tetraparesis Bradykinesia Short foot Enlarged epiphyses Cleft soft palate Decreased glomerular filtration rate Squared iliac bones Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Renovascular hypertension Nonproductive cough Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Exudative retinopathy Abnormal adipose tissue morphology Vitreoretinopathy Abnormality of renal calyx morphology Pierre-Robin sequence Exostoses Glossoptosis Arthropathy Epiphyseal dysplasia Abnormality of the eye Midface retrusion Malar flattening Anteverted nares Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of prothrombin Chronic active hepatitis EEG with occipital slowing Precocious puberty in females Nephrocalcinosis Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Absence seizures Nausea Hypogonadotrophic hypogonadism Blepharophimosis Bowing of the long bones Abnormality of the metaphysis Abnormality of the ribs Dental malocclusion Full cheeks Everted lower lip vermilion Flat face Micromelia Arthrogryposis multiplex congenita Neurological speech impairment Prominent nasal bridge Feeding difficulties in infancy Nephrolithiasis Apnea Low-set, posteriorly rotated ears Anxiety Polyhydramnios Narrow mouth Delayed skeletal maturation Arrhythmia Hypertonia Talipes equinovarus Skeletal muscle atrophy Ptosis Exophoria Decreased body weight Increased bone mineral density Abnormal levels of creatine kinase in blood High pitched voice Distichiasis Abnormality of the pharynx Aplasia/Hypoplasia affecting the eye Blepharospasm Abnormal eyebrow morphology Malignant hyperthermia Sprengel anomaly Abnormality of the ureter Hip contracture Abnormality of immune system physiology Spinal rigidity Skeletal muscle hypertrophy Low anterior hairline Mask-like facies Myotonia Overfolded helix Elbow dislocation Ectopia lentis Cachexia Abnormality of the urinary system Dysphonia Laryngomalacia Coxa vara Wormian bones EMG abnormality Cerebral white matter atrophy Intellectual disability, borderline Weak voice Congenital hip dislocation Corneal scarring Corneal erosion Sclerocornea Soft skin Megalocornea Keratoconus Hallux valgus Increased susceptibility to fractures Hyperextensible skin Corneal dystrophy Cutis laxa Blue sclerae Flat cornea Recurrent fractures Bruising susceptibility Joint hypermobility Arachnodactyly Hip dislocation Camptodactyly Neonatal hypotonia Glaucoma Hernia Edema Exercise-induced muscle fatigue Hyperkinesis Shoulder dislocation Keratoglobus Alacrima Apraxia Muscle fiber atrophy Recurrent ear infections Speech apraxia Achalasia Esophagitis Adrenal insufficiency Athetosis Impulsivity Gowers sign CNS hypomyelination Scapular winging Lower limb spasticity Generalized-onset seizure Decreased corneal thickness Muscle cramps Inability to walk Abnormality of movement Congenital cataract Muscular dystrophy Proximal muscle weakness EEG abnormality Cerebral cortical atrophy Brachycephaly Intrauterine growth retardation Dysarthria Abnormality of hair pigmentation Wrist flexion contracture Flexion contracture of toe Increased body weight Hirsutism Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Ascites Sleep disturbance Nephropathy Retinal dystrophy Hepatic failure Progressive visual loss Tachycardia Cirrhosis Stage 5 chronic kidney disease Lymphadenopathy Retinal degeneration Dry skin Infertility Delayed puberty Ophthalmoplegia Hypermetropia Hypotrichosis Dilated cardiomyopathy Otitis media Specific learning disability Nyctalopia Anorexia Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Insulin resistance Abnormality of retinal pigmentation Chronic diarrhea Cyanosis Thickened skin Left ventricular hypertrophy Recurrent urinary tract infections Involuntary movements Recurrent otitis media Hypertriglyceridemia Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Optic disc pallor Hepatitis Pigmentary retinopathy Cough Retinopathy Abnormally ossified vertebrae Hypertension Obesity Dilatation Renal insufficiency Splenomegaly Congestive heart failure Vomiting Blindness Cardiomyopathy Respiratory distress Optic atrophy Peripheral neuropathy Cognitive impairment Clinodactyly Failure to thrive Nystagmus Abnormally straight spine Long eyelashes in irregular rows Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Pursed lips Prenatal movement abnormality Metatarsus valgus Protrusio acetabuli Encephalopathy Patent ductus arteriosus Scarring Dyspnea Sparse hair Autistic behavior Pallor Respiratory tract infection Postnatal growth retardation Abnormality of the kidney Proteinuria Deeply set eye Photophobia Jaundice Hepatosplenomegaly Gastroesophageal reflux Hypothyroidism Alopecia Autism Weight loss Respiratory failure Polydactyly Abdominal pain Diabetes mellitus Hypogonadism Hyperhidrosis Myoclonus Rod-cone dystrophy Recurrent respiratory infections Pneumonia Mild myopia


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