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14 Possible Causes for Coxa Vara, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    vara 0002812 Delayed epiphyseal ossification 0002663 Disproportionate short stature 0003498 Fibular overgrowth Overgrowth of calf bone 0003099 Flared metaphysis Flared wide[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] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org]

  • Dyggve-Melchior-Clausen Syndrome

    Carpal bone hypoplasia Small carpal bones Small carpals [ more ] 0001498 Cone-shaped epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Coxa[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] vara Deformed sella turcica Disproportionate short-trunk short stature Distal ulnar hypoplasia Enlargement of the costochondral junction Flat acetabular roof Flat glenoid[dovemed.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    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[malacards.org] 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]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    This is a dominant heritable condition associated with short stature and developmental coxa vara.[ncbi.nlm.nih.gov] 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]

  • Platyspondyly

    vara, genu varum and pear-shaped vertebrae in childhood.[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]

  • Distal Symphalangism

    There is a unique genetic condition described in Saudi Arabian families, the camptodactylyarthropathy-coxa vara-pericarditis (CACP) syndrome.[musculoskeletalkey.com] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] […] valga Coxa vara Dislocated hip Cone shaped epiphyses Fibulae a-/hypoplastic/under-/unossified Cone-shaped epiphyses of proximal phalanges Cone-shaped epiphyses of middle[head-face-med.biomedcentral.com]

  • Metaphyseal Chondrodysplasia Type Kaitila

    Radiographs of MCDS #51 show progressive coxa vara with metaphyseal irregularity ((a) 8.5 years, (b) 11 years).[documents.mx] 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]

  • Pelviscapular Dysplasia

    vara pericarditis syndrome Pericarditis-arthropathy-camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome Perifoveal telangiectasis - See[herenciageneticayenfermedad.blogspot.com] 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]

  • Spondyloepiphyseal Dysplasia Type Kimberley

    vara, genu varum and pear-shaped vertebrae in childhood.[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] Many children with SEDc are also diagnosed with a variety of orthopaedic conditions including: scoliosis, coxa vara, foot anomalies and joint problems.[en.wikipedia.org]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    Vara 3.8 Coxa Valga Chapter 4 Spine and Ribs Louanne Hudgins and Neda Zadeh Introduction 4.1 Occipitalization of the Atlas 4.2 Aplasia/Hypoplasia of the Odontoid Process[amazon.it] greater sacrosciatic notches Optic nerve coloboma Thoracic scoliosis Hand polydactyly Abnormality of the hand Iris hypopigmentation High hypermetropia Bowing of the legs[mendelian.co] Vara ; 3.8 Coxa Valga ; Chapter 4 Spine and Ribs ; Louanne Hudgins and Neda Zadeh ; Introduction ; 4.1 Occipitalization of the Atlas ; 4.2 Aplasia/Hypoplasia of the Odontoid[geneeskundeboek.nl]

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