Myopathy, and Skeletal dysplasia

Diseases related with Myopathy and Skeletal dysplasia

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

Top matches:

Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Fatigue
  • Myopathy


SOURCES: OMIM MESH MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Other less relevant matches:

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

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

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Skeletal dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Abnormality of the skeletal system Cataract Short neck Kyphosis Scoliosis Ptosis Hearing impairment Hypertelorism Growth delay Depressed nasal bridge Micrognathia Low-set ears Myopia Proximal muscle weakness Kyphoscoliosis Talipes equinovarus Delayed skeletal maturation Generalized hirsutism Overfolded helix Hyperlordosis Severe short stature Blepharophimosis Flat face Abnormal facial shape Delayed speech and language development Malignant hyperthermia Open mouth Flexion contracture of toe Bowing of the long bones Apnea Pectus carinatum Flexion contracture Downslanted palpebral fissures Fever Midface retrusion Epicanthus Pectus excavatum High palate Cognitive impairment Ventriculomegaly Hip dysplasia Inguinal hernia Cleft palate Hyporeflexia Microcephaly Umbilical hernia Strabismus Long face Osteopenia Neoplasm Gait disturbance Frontal bossing Dental malocclusion Genu valgum Macrocephaly

Rare Symptoms - Less than 30% cases

Syndactyly Headache Proptosis Abnormality of cardiovascular system morphology Intellectual disability, mild Clinodactyly of the 5th finger Abnormality of the dentition Prominent forehead Craniosynostosis Intellectual disability, severe Broad forehead Narrow mouth Osteoporosis Polyhydramnios Abnormal vertebral morphology Dolichocephaly Hyperostosis Optic atrophy Splenomegaly Immunodeficiency Recurrent infections Macrotia Thickened calvaria Flat occiput Nystagmus Malar flattening Confusion Gliosis Narrow palate Decreased antibody level in blood Hydrocephalus Pes planus Platyspondyly Camptodactyly Hip contracture Anxiety Joint stiffness Long eyelashes in irregular rows Shoulder flexion contracture Pursed lips Neurological speech impairment Weak voice Narrow forehead Thoracolumbar kyphosis Wrist flexion contracture Blepharospasm Abnormality of the metaphysis Increased bone mineral density Low anterior hairline High pitched voice Anteverted nares Joint contracture of the hand Long philtrum Microcornea Full cheeks Decreased testicular size Lumbar hyperlordosis Global developmental delay EMG abnormality Cachexia Seizures Coxa valga Coxa vara Metaphyseal widening Metatarsus valgus Skeletal muscle hypertrophy Asymmetry of the thorax Myotonia Facial hyperostosis Carious teeth Limb muscle weakness Motor delay Waddling gait Osteoarthritis Epiphyseal dysplasia Mild short stature Sensorineural hearing impairment Areflexia Failure to thrive Multiple epiphyseal dysplasia Metaphyseal striations Irregular epiphyses Abnormality of epiphysis morphology Micromelia Bowing of the legs Respiratory insufficiency Small epiphyses Brachycephaly Facial palsy Elevated serum creatine phosphokinase Talipes Abnormality of the foot Arthrogryposis multiplex congenita Conductive hearing impairment Upper limb asymmetry Open bite Abnormality of the sternum Thymus hyperplasia Retinal hamartoma Femoral bowing Keloids Neurodevelopmental delay Synovitis Bowel incontinence Heart murmur Bronchitis Bronchogenic cyst Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Spastic gait Straight clavicles Hallucinations Nevus sebaceous Limb dystonia Abnormality of the rib cage Abnormal cornea morphology Testicular neoplasm Craniofacial hyperostosis Lymphangioma Epidermal nevus Calvarial hyperostosis Portal vein thrombosis Macrodactyly Spondylolisthesis Sirenomelia Abnormality of the helix Aseptic necrosis Reduced ejection fraction Hydrocele testis Osteopathia striata Dysostosis multiplex Narrow internal auditory canal Impaired smooth pursuit Delusions Patellar dislocation Gingival overgrowth Severe sensorineural hearing impairment Limb ataxia Hypertrichosis Amblyopia Recurrent respiratory infections Corneal opacity Respiratory tract infection Mental deterioration Arthritis Hepatosplenomegaly Neoplasm of the thymus Coarse facial features Mandibular prognathia Gait ataxia Babinski sign Hypermetropia Depressivity Hernia Spasticity Cerebral atrophy Central heterochromia Connective tissue nevi Behavioral abnormality Cerebellar atrophy Hepatomegaly Hyperreflexia Abnormality of the cerebral white matter Depigmentation/hyperpigmentation of skin Tall stature Ataxia Progressive neurologic deterioration Dysarthria Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Paranasal sinus hypoplasia Optic disc pallor Peripheral demyelination Otitis media Hypertrophy of skin of soles Dysmetria Delayed myelination Retinal nonattachment Progressive cerebellar ataxia Macroglossia Neurodegeneration Muscular hypotonia Highly arched eyebrow Thick eyebrow Retinal degeneration Abnormal subcutaneous fat tissue distribution Nephrogenic diabetes insipidus Neurofibromas Abnormal echocardiogram Sinusitis Abnormality of finger Abnormality of the wrist Venous thrombosis Abnormality of dental enamel Abnormality of the nail Macroorchidism Meningioma Deep venous thrombosis Varicose veins Lymphopenia Arteriovenous malformation Capillary hemangioma Lower limb asymmetry High iliac wings Abnormality of the neck Hemihypertrophy Lymphedema Abnormality of retinal pigmentation Thickened skin Anisocytosis Subcutaneous nodule Arterial thrombosis Heterotopia Spinal cord compression Papilledema Epidermal acanthosis Palmoplantar hyperkeratosis Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Melanocytic nevus Chorioretinal coloboma Lipodystrophy Growth abnormality Multiple cafe-au-lait spots Reduced number of teeth Goiter Exostoses Hamartoma Ovarian neoplasm Generalized hyperpigmentation Pulmonary embolism Abnormality of the metacarpal bones Spinal canal stenosis Irregular hyperpigmentation Abnormal lung lobation Neoplasm of the lung Lipoma Hemangioma Abnormal form of the vertebral bodies Buphthalmos Vacuolated lymphocytes Decreased pulmonary function Visual loss Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Venous malformation Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Generalized abnormality of skin Generalized hyperkeratosis Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Multiple lipomas Retinal thinning Epibulbar dermoid Long ear Abnormality of the gingiva Cranial hyperostosis Neoplasm of the central nervous system Constipation Myofibrillar myopathy Polymicrogyria High myopia Overgrowth Round face Thin bony cortex Nevus Long penis Visceral angiomatosis Sudden cardiac death Abdominal distention Renal cyst Thick nasal alae Enlarged polycystic ovaries Abdominal pain Abnormality of skin pigmentation Facial asymmetry Hip dislocation Asymmetric growth Finger syndactyly Intellectual disability, moderate Carcinoma Vascular skin abnormality Hyperkeratosis Glaucoma Thrombophlebitis Cerebral dysmyelination Thick vermilion border Unilateral facial palsy Myopathic facies Elbow flexion contracture Recurrent fractures Rigidity Hyperhidrosis Respiratory distress Dysphagia Hypertension Multiple skeletal anomalies Restrictive deficit on pulmonary function testing Ankle contracture Gowers sign Congenital hip dislocation Congenital contracture Tented upper lip vermilion Short palpebral fissure Generalized muscle weakness Downturned corners of mouth Telecanthus Feeding difficulties Cryptorchidism Hypothalamic luteinizing hormone-releasing hormone deficiency Lumbar kyphosis Pituitary dwarfism Abnormal autonomic nervous system physiology Narrow palpebral fissure Abnormal anterior horn cell morphology Hypertonia Decreased body weight Pulmonary arterial hypertension Abnormality of the ribs Everted lower lip vermilion Prominent nasal bridge Attention deficit hyperactivity disorder Irritability Feeding difficulties in infancy Low-set, posteriorly rotated ears Myalgia Arrhythmia Visual impairment Sleep apnea Anterior bowing of long bones Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Percussion myotonia Talipes valgus Temperature instability Spinal deformities Hypoplasia of the musculature Coronal cleft vertebrae Constrictive median neuropathy Thoracolumbar kyphoscoliosis Prolactin deficiency Wormian bones Osteomyelitis Patchy osteosclerosis Histiocytoma Presenile cataracts Fibrosarcoma Limb-girdle muscle atrophy Fractures of the long bones Osteosarcoma Limb-girdle muscle weakness Soft skin Pathologic fracture Premature graying of hair Sarcoma Diaphyseal cortical sclerosis Thin skin Bruising susceptibility Abnormality of the hip joint Knee pain Delayed epiphyseal ossification Mildly elevated creatine phosphokinase Easy fatigability Short metacarpal Lower limb muscle weakness Difficulty walking Fatigue Stenosis of the medullary cavity of the long bones Osteomyelitis leading to amputation due to slow healing fractures Anterior pituitary hypoplasia Joint hypermobility Gonadotropin deficiency Adrenocorticotropic hormone deficiency Panhypopituitarism Pituitary hypothyroidism Thoracic kyphosis Hypopituitarism Hyperextensible skin Increased body weight Small nail Cyanosis Growth hormone deficiency Jaundice Arthralgia Micropenis Ankle pain Knee osteoarthritis Flattened epiphysis Osteochondritis Dissecans Hypoplasia of the capital femoral epiphysis Abnormal joint morphology Genu varum Limitation of joint mobility Hypodontia Short palm Nephrolithiasis Laryngomalacia Laryngeal web Cutaneous syndactyly Visual field defect Hypoplastic left heart Dysphasia Aphasia Delayed cranial suture closure Nephroblastoma Increased susceptibility to fractures Pyloric stenosis Nasal speech Mutism Holoprosencephaly Partial agenesis of the corpus callosum Spina bifida occulta Osteolysis Microretrognathia Spontaneous abortion Multicystic kidney dysplasia Spina bifida Aortic valve stenosis Dental crowding Large fontanelles Aganglionic megacolon Omphalocele Mixed hearing impairment Natal tooth Coarctation of aorta Facial paralysis Craniofacial osteosclerosis Large iliac wings Laryngotracheomalacia Alobar holoprosencephaly Broad clavicles Rough bone trabeculation Sclerosis of skull base Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Large forehead Submucous cleft hard palate Broad ribs Thoracic dysplasia Ectopic anus Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Tracheomalacia Fibular hypoplasia Anal stenosis Thick lower lip vermilion Oligohydramnios Dysphonia Abnormality of the pharynx Hypoplasia of the corpus callosum Ventricular septal defect Wide nasal bridge Abnormally straight spine Elevated aldolase level Testicular torsion Odontogenic neoplasm Prenatal movement abnormality Protrusio acetabuli Abnormally ossified vertebrae Distichiasis Aplasia/Hypoplasia affecting the eye Dilatation Trismus Abnormal eyebrow morphology Sprengel anomaly Abnormality of the ureter Abnormality of immune system physiology Increased number of teeth Spinal rigidity Mask-like facies Elbow dislocation Ectopia lentis Abnormality of the urinary system Atrial septal defect Clinodactyly Cerebral calcification Arachnodactyly Specific learning disability Wide intermamillary distance Abnormality of the skin Webbed neck Intestinal malrotation Bifid uvula Broad nasal tip Delayed eruption of teeth High, narrow palate Thin vermilion border Cleft upper lip Anal atresia Patent ductus arteriosus Ophthalmoplegia Microtia Paralysis Cleft lip Hydronephrosis Retrognathia High forehead Gastroesophageal reflux Hypothyroidism Posteriorly rotated ears Abnormal heart morphology Mandibular hyperostosis


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