Presentation
ORPHA:2619 Synonym(s): Mseleni joint disease Prevalence: Unknown Inheritance: Unknown Age of onset: Childhood ICD-10: Q77.7 OMIM: 613342 UMLS: C2931420 MeSH: C537086 GARD: 960 MedDRA: - The documents contained in this web site are presented for information [orpha.net]
Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S. [globalgenes.org]
The antigen-presenting energy of fresh, matured parenchymal microglia and perivascular cells from retina. [nhha.org]
Cockayne syndrome type 3 Coffin-Lowry syndrome Coffin-Siris syndrome Cohen syndrome Cole-Carpenter syndrome Congenital absence of both forearm and hand Congenital absence of both lower leg and foot Congenital absence of thigh and lower leg with foot present [se-atlas.de]
Entire Body System
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Pain
Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain [rarediseases.info.nih.gov]
Management include pain relievers, and possibly hip-replacement to improve mobility. Support Organizations Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling. [diseaseinfosearch.org]
[…] exercise (8 causes), Chronic orthostatic hypotension (15 causes), Chronic pain on exertion (11 causes), Chronic pain sitting down (22 causes), Chronic pain when walking (16 causes), Chronic spinal pain increased by exercise (6 causes), Clonus in children [archive.is]
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Short Stature
Overview Brachydactylous dwarfism, Mseleni type is a very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. [checkorphan.org]
Name Mseleni Joint Disease Synonyms - Classification bone, developmental, genetic Phenotypes Severe short stature Associated Genes - Mouse Orthologs - Source OMIM:613342 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl [mousephenotype.org]
More on Brachydactylous dwarfism Mseleni type » Symptoms List: Brachydactylous dwarfism Mseleni type Symptoms and clinical features may include: 2 Clinical Features of Brachydactylous Dwarfism, Mseleni Type : Severe short stature ... [familydiagnosis.com]
This condition is characterized by short stature, short fingers and toes (brachydactyly), and low bone density (osteopenia). Affected patients may be seriously handicapped as adults. [diseaseinfosearch.org]
[…] atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-webbed neck-heart disease syndrome [se-atlas.de]
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Disability
The condition can eventually lead to disability and hip and/or knee replacements in serious cases. Symptoms - Brachydactylous dwarfism Mseleni type Causes - Brachydactylous dwarfism Mseleni type Not supplied. [checkorphan.org]
disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]
Biochemical signals trigger late-model wart of limited blood vessels both in healthful and disability tissues. [nhha.org]
disabling, discordance, disease, disease, diseases, disomy, disorder, disordered, disorders, disorganization, disproportion, disruption, dissecting, dissection, disseminata, disseminated, distal, distal, distal, distal, distichiasis, distilbene, distomatosis [rapsodyonline.eurordis.org]
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Short Finger
Overview Brachydactylous dwarfism, Mseleni type is a very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. [checkorphan.org]
This condition is characterized by short stature, short fingers and toes (brachydactyly), and low bone density (osteopenia). Affected patients may be seriously handicapped as adults. [diseaseinfosearch.org]
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Broad Thumb
thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Trismus-pseudocamptodactyly syndrome Trisomy Xq28 Tuberous sclerosis complex Turner [se-atlas.de]
Musculoskeletal
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Brachydactyly
Causes of Dwarfism Similar Topic Articles Brachydactyly Dwarfism Names and Terminology References Source: Monarch Initiative Source: Human Phenotype Ontology Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 960/ brachydactylous-dwarfism-mseleni-type [familydiagnosis.com]
Severe short staure and brachydactyly have been reported in a few patients with MJD. Last updated: 4/14/2015 [rarediseases.info.nih.gov]
Severe short staure and brachydactyly have been reported in a few patients with MJD.Visit the Orphanet disease page for more resources. [malacards.org]
Severe short staure and brachydactyly have been reported in a few patients with MJD. [orpha.net]
This condition is characterized by short stature, short fingers and toes (brachydactyly), and low bone density (osteopenia). Affected patients may be seriously handicapped as adults. [diseaseinfosearch.org]
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Osteopenia
This condition is characterized by short stature, short fingers and toes (brachydactyly), and low bone density (osteopenia). Affected patients may be seriously handicapped as adults. [diseaseinfosearch.org]
Galloway-Mowat syndrome Geleophysic dysplasia Genetic syndrome with limb reduction defects Genitopatellar syndrome Genochondromatosis type 1 Genochondromatosis type 2 Geroderma osteodysplastica Ghosal hematodiaphyseal dysplasia Global developmental delay-osteopenia-ectodermal [se-atlas.de]
[…] osteochondrodysplasia, osteochondrodysplatic, osteochondromatosis, osteochondroplastica, osteoclastic, osteodysplasia, osteodysplastic, osteodysplastica, osteodystrophy, osteogenesis, osteogenic, osteoglophonic, osteolysis, osteomyelitis, osteopaenia, osteopathia, osteopenia [rapsodyonline.eurordis.org]
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Skeletal Dysplasia
dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy [se-atlas.de]
dysplasia h Page 263 and 264: monochromatic type Ubiquinone Oxydo [yumpu.com]
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Anterior Knee Pain
knee pain related to sports (11 causes), Areflexia (74 causes), Arm paralysis (29 causes), Arm tremor (7 causes), Arm weakness (100 causes), Arm weakness in children (15 causes), Nuchal rigidity due to meningitis (10 causes), Arms are adducted and extended [archive.is]
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Carpopedal Spasm
spasm (8 causes), Tremor (353 causes), Tics (20 causes), Twitches (57 causes), Chorea (119 causes), Clonus (23 causes), Autonomic seizure (1 cause), Grand mal seizures (24 causes), Jerky trunk movements (1 cause), Muscle spasms (929 causes), Epilepsy [archive.is]
Psychiatrical
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Aggressive Behavior
behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity [se-atlas.de]
Neurologic
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Seizure
[…] anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse hair-brachydactyly [se-atlas.de]
Paralysis (325 causes), Spasms (2183 causes), Seizures (2418 causes), Stiffness (692 causes), Inability to move (11 causes), Jerky movements (4 causes), Movement disorders (42 causes), Bradykinesia (70 causes), Slowness of movement (19 causes), Sudden [archive.is]
It was famous that seven Japanese patients developed seizures following concurrent superintendence of enoxacine and fenbufen. Debate possible side effects of psychotropic medications during pregnancy and breastfeeding. [nhha.org]
[…] sclerodactyly, scleroderma, sclerosing, sclerosis, sclerosis-parkinsonism-dementia, sclerosus, scoliosis, scot, scott, scrotal, scrotum, scrub, sebaceous, sebocystomatosis, seckel, secreting, secretion, seemanova, segment, segmental, segmentation, seip, seizures [rapsodyonline.eurordis.org]
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Hand Tremor
tremor (41 causes), Hand tremor in children (7 causes), Hand tremors (17 causes), Hand weakness (57 causes), Hand weakness in children (13 causes), Handlebar palsy (1 cause), Headache worsened by exercise (7 causes), Heart attack and exercise (9 causes [archive.is]
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Abnormal Gait
gait (172 causes), Abnormal gait in children (51 causes), Abnormal involuntary movements of the eyes (3 causes), Abnormal involuntary movements of the face (13 causes), Abnormal involuntary movements of the mouth (1 cause), Abnormal involuntary movements [archive.is]
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Spastic Paralysis
paralysis (14 causes), Spasticity in children (35 causes), Spasticity of both legs (7 causes), Spasticity of the leg (10 causes), Spasticity of the legs (12 causes), Speech ataxia (9 causes), Spinal pain experienced on movement (18 causes), Sports and [archive.is]
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Spastic Gait
gait (26 causes), Spastic gait in children (9 causes), Spastic hemiplegia (14 causes), Spastic paralysis (14 causes), Spasticity in children (35 causes), Spasticity of both legs (7 causes), Spasticity of the leg (10 causes), Spasticity of the legs (12 [archive.is]
Treatment
More Symptoms of Brachydactylous dwarfism Mseleni type » Diagnosis See also related information on diagnosis: Diagnosis of Dwarfism Treatments See also the following treatment articles: Treatments for Dwarfism Causes See also causal information: Causes [familydiagnosis.com]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Treatment - Brachydactylous dwarfism Mseleni type Not supplied. Resources - Brachydactylous dwarfism Mseleni type [checkorphan.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
Prognosis
Prognosis - Brachydactylous dwarfism Mseleni type Not supplied. Treatment - Brachydactylous dwarfism Mseleni type Not supplied. Resources - Brachydactylous dwarfism Mseleni type [checkorphan.org]
Prevention
Prevention - Brachydactylous dwarfism Mseleni type Not supplied. Diagnosis - Brachydactylous dwarfism Mseleni type Not supplied. Prognosis - Brachydactylous dwarfism Mseleni type Not supplied. [checkorphan.org]
The DOR agonists may contend in a role in reversing or preventing hyperalgesia, frantic bore, and long-standing sadden after mistreatment. [nhha.org]