Presentation
Mild genu varum was commonly present. Radiographic studies showed metaphyseal flaring and irregularity and delay and irregularity of epiphyseal ossification. [omim.org]
Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables. [books.google.com]
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.es]
Root stumps were present in relation to 46 [Figure 2] a and b. [jiaomr.in]
Jaw & Teeth
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Periodontitis
[…] hypotrichosis 9 hypotrichosis and recurrent skin vesicles hypotrichosis of eyelid Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate Hypotrichosis-Lymphedema-Telangiectasia Syndrome Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar [rgd.mcw.edu]
Parkinsonism, Juvenile, Autosomal Recessive Paroxysmal Extreme Pain Disorder Partial Atrioventricular Septal Defect and Heterotaxy Syndrome Peeling Skin Syndrome Pelizaeus-Merzbacher Disease, Mild Pendred Syndrome Periodic Fever, Autosomal Dominant Periodontitis [sequencing.com]
[…] dyskinesia ( MR1) Partington syndrome ( ARX) PCWH syndrome ( SOX10) Peeling skin syndrome, acral type ( TGM5) Pelger-Huet anomaly ( LBR) Pelizaeus-Merzbacher disease ( PLP1) Pendred syndrome ( SLC26A4) Pentosuria ( DCXR) Periodic fever, familial ( TNFRSF1A) Periodontitis [de.praenatal-medizin.de]
2 Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 4 Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 4 Ehlers-Danlos Syndrome, Musculocontractural Type 3 Ehlers-Danlos Syndrome, Musculocontractural Type 2 1 Ehlers-Danlos Syndrome, Periodontal [preventiongenetics.com]
Periodontitis, juvenile, 170650 (3) CTSD G:116840 Bell neurological Ceroid lipofuscinosis, neuronal, 10, 610127 (3) CTSE G:116890. . CTSF G:603539. . CTSG G:116830. . CTSH G:116820. . [usegalaxy.org]
Skin
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Alopecia
[…] achondrogenesis achondroplasia acrocapitofemoral dysplasia acrodysostosis Acrodysplasia Scoliosis Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia acromesomelic dysplasia Acropectorovertebral Dysplasia Akaba Hayasaka Syndrome alopecia [rgd.mcw.edu]
[…] the following Bone, Skin & Immune diseases that are of genetic origin: Achondrogenesis Achondroplasia Acne inversa familial Acrodermatitis enteropathica Acrodysostosis Acrofacial dysostosis, Nager type Adams-Oliver syndrome Albinism, oculocutaneous Alopecia [qlinics.com]
[…] patchy) scalp hypotrichosis from 6 months of age or earlier with no improvement, AND Patient older than three years Exclusion Criteria Patchy hypotrichosis Patchy or episodic regrowth Syndromic congenital hypotrichosis including ectodermal dysplasias, alopecia [eastgenomics.org.uk]
(Dorland, 27th ed) less than normal amt of hair; do not confuse with HYPERTRICHOSIS, localized or generalized excess hair Examples Alopecia Other names Hypotrichoses Substance CAS Registry & name Categories Source Juvenile macular degeneration and hypotrichosis [reference.md]
Musculoskeletal
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Coxa Vara
Symptoms via clinical synopsis from OMIM: 57 Skin Nails Hair Hair: hypotrichosis Skeletal Pelvis: coxa vara flared iliac wings short femoral neck limited hip abduction Head And Neck Teeth: normal teeth Chest Ribs Sternum Clavicles And Scapulae: medial [malacards.org]
Showing of 18 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Coxa vara 0002812 Decreased hip abduction 0003184 Delayed epiphyseal ossification 0002663 Flared femoral metaphysis 0002834 Flared [rarediseases.info.nih.gov]
Other skeletal signs include flattened vertebrae ( platyspondyly ), severe protrusion of the breastbone ( pectus carinatum ), a hip joint deformity in which the upper leg bones turn inward ( coxa vara ), and a foot deformity known as clubfoot. [en.wikipedia.org]
Radiological examination revealed platyspondyly, with increased intervertebral disk spaces, short bowed long bones with defective epiphyseal mineralization, cupping of the metaphyses, flat acetabular roof, coxa vara and short ribs, with a narrow chest [jiaomr.in]
In the first group the changes are severe with absent ossification of the femoral neck and coxa vara. In the second group the changes of the femoral neck are moderate and in the third mild metaphyseal irregularities are only visible. [blueprintgenetics.com]
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Genu Valgum
valgum Limitation of joint mobility Macroorchidism Strabismus Hypotelorism Abnormality of the abdominal wall Abnormality of the thyroid gland Prematurely aged appearance Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Fasting [mendelian.co]
The patients of SMS have a short trunk, dwarfism, a striking barrel-shaped chest, sternal protrusion, kyphoscoliosis, and various distal deformities, including genu valgum or varum. [jiaomr.in]
Joint abnormalities may lead to the development of hip deformity in which the thigh bone is angled toward the center of the body (coxa vara) and/or knee deformities, including bow legs (genu varum) and ‘knock knees’ (genu valgum). [rarediseases.org]
The shoulders may appear drooped and demonstrate an increased range of motion and genu valgum and brachydactyly may be seen. [radiologykey.com]
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Limited Hip Abduction
Symptoms via clinical synopsis from OMIM: 57 Skin Nails Hair Hair: hypotrichosis Skeletal Pelvis: coxa vara flared iliac wings short femoral neck limited hip abduction Head And Neck Teeth: normal teeth Chest Ribs Sternum Clavicles And Scapulae: medial [malacards.org]
hip abduction and mild genu varum. [rarediseases.info.nih.gov]
Workup
Clinical Testing and Workup Basic x-rays (radiography) can be used to provide a thorough, careful examination of the entire bone system (complete skeletal survey) in order to detect changes in the skeleton that are characteristic of SEDC. [rarediseases.org]
Treatment
There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you. [rarediseases.info.nih.gov]
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]
More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. [books.google.es]
Standard Therapies Treatment Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
Treatment - Anauxetic dysplasia Not supplied. Resources - Anauxetic dysplasia [checkorphan.org]
Prognosis
Prognosis - Anauxetic dysplasia Not supplied. Treatment - Anauxetic dysplasia Not supplied. Resources - Anauxetic dysplasia [checkorphan.org]
Prognosis Prognosis is good under physician care. It is particularly important to receive regular vision and hearing exams. If retinal detachment is a risk, it may be advisable to avoid contact sports. [encyclopedia.com]
A full diagnosis based on clinical and molecular findings can help predict the prognosis of the disease and inform its management. [analesdepediatria.org]
Two distinct subtypes historically have been described based on the degree of abnormality of the developing hips and this classification may assist in prognosis and treatment planning. [radiologykey.com]
Etiology
[…] syndrome 2 Cases 85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 18 Cases 1856 Spondyloperipheral dysplasia- short ulna syndrome 10 Families 29822 Spontaneous periodic hypothermia 50 Cases 247234 Sporadic adult-onset ataxia of unknown etiology [azkurs.org]
[…] upper cervical complex or craniovertebral junction at increased risk. 221 The relationship between Down syndrome and congenital laxity of the transverse portion of the cruciate ligament of C1 is well known, and is generally considered to be the primary etiology [radiologykey.com]
There are almost 100 skeletal disorders of unknown etiology [ 23 ], but the pace at which the molecular basis of these phenotypes are being identified is rapid. [journals.plos.org]
Epidemiology
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.es]
Prevention
Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.es]
Prevention - Anauxetic dysplasia Not supplied. Diagnosis - Anauxetic dysplasia Not supplied. Prognosis - Anauxetic dysplasia Not supplied. Treatment - Anauxetic dysplasia Not supplied. Resources - Anauxetic dysplasia [checkorphan.org]
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition. [en.wikipedia.org]