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10 Possible Causes for Arthralgia, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Dyggve-Melchior-Clausen Syndrome

    greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[rarediseases.info.nih.gov] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[dovemed.com]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    […] dislocation Hypoplastic iliac wing Autosomal recessive inheritance Metaphyseal dysplasia Blue sclerae Vertebral segmentation defect Intellectual disability Recurrent fractures Arthralgia[mendelian.co] greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[rarediseases.info.nih.gov] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[rarediseases.info.nih.gov] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov] […] separated 0000506 Percent of people who have these symptoms is not available through HPO Anterior rib cupping 0000907 Autosomal recessive inheritance 0000007 Coxa vara 0002812 Narrow[rarediseases.info.nih.gov]

  • Rhizomelic Syndrome Type Urbach

    Abnormality of cardiovascular system morphology Infantile onset Cataract Scaling skin Plantar hyperkeratosis Meningitis Proptosis Overgrowth Migraine Premature birth Myalgia Arthralgia[mendelian.co] short stature, deformity of the lower limbs, short fingers, and ligamentous laxity give pseudoachondroplasia its distinctive features.[en.wikipedia.org] greater sacrosciatic notches Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Neurodevelopmental delay Disproportionate short[mendelian.co]

  • Platyspondyly

    […] wings Short long bone Hoarse voice Coxa valga Unsteady gait Limb muscle weakness Difficulty walking Joint stiffness Muscle weakness Small forehead Flattened femoral head Arthralgia[mendelian.co] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Komuragaeri Disease

    […] atresia Hypopigmentation of the skin Membranous nephropathy Visual impairment Short palm Muscular hypotonia of the trunk Dislocated radial head Prominent occiput Broad hallux Arthralgia[mendelian.co] The efficacy of prophylactic shakuyaku-kanzo-to for myalgia and arthralgia following Carboplatin and Paclitaxel combination chemotherapy for non-small cell lung cancer.[jsom.or.jp] greater sacrosciatic notches Abnormal sacrum morphology Brachyturricephaly Bicoronal synostosis Acanthoma Acrania Convex nasal ridge Cementoma Cloverleaf skull Glomerulonephritis[mendelian.co]

  • Distal Symphalangism

    Small nail Finger syndactyly Small for gestational age Brachydactyly Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia[mendelian.co] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] flexion contracture Thickened skin Aortic valve stenosis Macrotia Myelopathy Broad femoral neck Lumbar kyphosis Thoracolumbar kyphosis Broad phalanx Atlantoaxial instability Arthralgia[mendelian.co] greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[mendelian.co] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Spondyloepiphyseal Dysplasia Type Kimberley

    Related symptoms: Short stature Gait disturbance Arthralgia Genu valgum Micromelia SOURCES: ORPHANET More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY[mendelian.co] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] greater sacrosciatic notches Anterior rib cupping Hypoplastic pubic bone Delayed pubic bone ossification Pelvic bone exostoses Synostosis of joints Anteverted nares Hypoplasia[mendelian.co]

  • Odonto Tricho Ungual Digito Palmar Syndrome

    […] flexion contracture Thickened skin Aortic valve stenosis Macrotia Myelopathy Broad femoral neck Lumbar kyphosis Thoracolumbar kyphosis Broad phalanx Atlantoaxial instability Arthralgia[mendelian.co] greater sacrosciatic notches Inflammatory abnormality of the eye Adermatoglyphia Phimosis Partial albinism Bronchomalacia White forelock Atelectasis Blue irides Heterochromia[mendelian.co] Thoracolumbar kyphosis Beaking of vertebral bodies Fine hair Waddling gait Muscle weakness Profound global developmental delay Poikilocytosis Myopia Kyphosis Kyphoscoliosis Arthralgia[mendelian.co]

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