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511 Possible Causes for Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature, Shortening of the Metatarsals

  • Dyggve-Melchior-Clausen Syndrome

    The marked shortening of the metatarsals and phalanges with flaring of their ends are well demonstrated in patient S. at 18 years of age (fig. 11).[healthdocbox.com] 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 Type Shohat

    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] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org]

    Missing: Shortening of the Metatarsals
  • Spondyloepimetaphyseal Dysplasia Type Strudwick 

    shortening, Stickler syndrome type 1 AD 180 561 COL3A1 Ehlers-Danlos syndrome AD 520 631 COL5A1 Ehlers-Danlos syndrome AD 101 154 COL5A2 Ehlers-Danlos syndrome AD 24 35 EFEMP2[blueprintgenetics.com] greater sacrosciatic notches ; Pectus carinatum ; Pes planus ; Platyspondyly ; Protuberant abdomen ; Scoliosis ; Severe short stature ; Spondyloepimetaphyseal dysplasia Associated[mousephenotype.org] shortening (formerly Czech dysplasia), stickler syndrome type 1, are depicted by a simple ball (red ball represents gene and blue ball represents disease) and a straight[academic.oup.com]

    Missing: Severely Disproportionate Short Stature
  • Anauxetic Dysplasia

    shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1[genda.com.ar] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] […] deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal[genda.com.ar]

    Missing: Narrow Greater Sacrosciatic Notch
  • Platyspondyly

    The clavicles, ribs, metacarpals, metatarsals, and phalanges were especially thickened and widened. The long bones were shortened with flared metaphyses.[bases.bireme.br] 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

    In type D, the distal phalanges of the thumbs and/or great toes are shortened and broad. In type E, the metacarpals and/or metatarsals are shortened.[encyclopedia.com] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] Generalized Shortening)[gamuts.isradiology.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Czech異形成症) 中足骨短縮を伴う脊椎骨端異形成症(以前の dysplasia) Czech (formerly shortening metatarsal with SED ⑨ 早発性関節症を伴う軽症脊椎骨端異形成症 onsetarthrosis premature with SED Mild ⑧ 脊椎末梢異形成症 dysplasia[megatour.cz] 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]

  • Mesomelic Dysplasia Type Langer

    Shortening ; 24.8 Spondyloepiphyseal Dysplasia with Premature Onset Arthrosis ; 24.9 Vitreoretinopathy with phalangeal epiphyseal dysplasia ; 24.10 Stickler Dysplasia ; 25[bookdepository.com] From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening[wikidata.org] C Periosteal thickening of the metatarsals. Osteopenia. D Bowed femora. Coxa valga. Abnormal trabecularpattern. E 15 years old.[dokumen.tips]

    Missing: Narrow Greater Sacrosciatic Notch
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    This subgroup also included a trio (samples R169, R169_1, R169_2), being a case of idiopathic shortening of the metatarsals, and unaffected parents and no candidate mutations[journals.plos.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]

  • Pseudoachondroplasia

    The hands and wrists show delayed maturation, and there is shortening and widening of the phalanges, metacarpals, and metatarsals (Figure 3).[appliedradiology.com] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] The hand and foot bones (metacarpals, metatarsals and phalanges) are broad and shortened with small and rudimentary epiphysis.[ijoonline.com]

    Missing: Narrow Greater Sacrosciatic Notch

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