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14 Possible Causes for Genu Valgum, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    […] dysplasia with severe genu valgum; spondylometaphyseal dysplasia, algerian type Related symptoms: Autosomal dominant inheritance Short stature Myopia Severe short stature[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]

  • Dyggve-Melchior-Clausen Syndrome

    The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and minimal decrease in joint mobility.[ncbi.nlm.nih.gov] 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]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    valgum Limitation of joint mobility Macroorchidism Strabismus Hypotelorism Abnormality of the abdominal wall Abnormality of the thyroid gland Prematurely aged appearance[mendelian.co] greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[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[jiaomr.in]

  • Platyspondyly

    […] dysplasia with severe genu valgum; spondylometaphyseal dysplasia, algerian type Related symptoms: Autosomal dominant inheritance Short stature Myopia Severe short stature[mendelian.co] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly[sajr.org.za]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    […] dysplasia with severe genu valgum, Spondylometaphyseal Dysplasia, Schmidt Type, SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE Annotation Sufficiency: ?[monarchinitiative.org] 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]

  • Komuragaeri Disease

    […] varus, right sided genu valgum; (i v ) and delayed bone age.[indianpediatrics.net] greater sacrosciatic notches Abnormal sacrum morphology Brachyturricephaly Bicoronal synostosis Acanthoma Acrania Convex nasal ridge Cementoma Cloverleaf skull Glomerulonephritis[mendelian.co] […] and bony deformities within the affected joints.14Radiological findings also include slipping of epiphyses, meta-physeal cysts, bone fragmentation at tendinous insertions,genu[docslide.com.br]

  • Spondyloepiphyseal Dysplasia Type Kimberley

    valgum Genu varum Flat capital femoral epiphysis Proportionate short stature • • • More clinical features may include: 3 Clinical Features of Spondyloepiphyseal dysplasia[familydiagnosis.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] valgum ; Genu varum ; Platyspondyly ; Proportionate short stature ; Spondyloepiphyseal dysplasia Associated Genes ACAN (Withdrawn symbols: AGC1, CSPG1, CSPGCP, MSK16 ) Mouse[mousephenotype.org]

  • Distal Symphalangism

    Thick vermilion border Small hand Retinal dystrophy Astigmatism Aciduria Neutropenia Highly arched eyebrow Prominent nose Retinal detachment Thick eyebrow Smooth philtrum Genu[mendelian.co] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] valgum Delayed puberty Retinal degeneration Severe global developmental delay Nyctalopia Convex nasal ridge Growth hormone deficiency Cellulitis Laryngomalacia Cerebral hemorrhage[mendelian.co]

  • Pelviscapular Dysplasia

    VALGUM 273120 : TERATOMA, PINEAL 273150 : TESTES, RUDIMENTARY 273250 : TESTICULAR REGRESSION SYNDROME; TRS 273390 : TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT[www5.geometry.net] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[mendelian.co]

  • Metaphyseal Chondrodysplasia Type Kaitila

    Genu valgum, coxa valga, and shortening of the tubular bones in the hands and feet can be additional features (Herdman et al. 1966).[rrnursingschool.biz] greater sacrosciatic notches Hepatic cysts Microtia Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Short palm Short metacarpal Thick vermilion[mendelian.co] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[documents.tips]

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