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140 Possible Causes for Severely Disproportionate Short Stature, Short Neck

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    […] stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe[] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[] Orpha Number: 93352 Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature , short limbs, small[]

  • Anauxetic Dysplasia

    […] finger ; Short neck ; Short toe ; Small epiphyses Associated Genes RMRP (Withdrawn symbols: CHH, NME1, RMRPR, RRP2 ) Mouse Orthologs Rmrp (Withdrawn symbols: Rmrpr ) Source[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[] […] upper portion of limb 0008905 Short finger Stubby finger Stubby fingers [ more ] 0009381 Short neck Decreased length of neck 0000470 Short toe Short toes Stubby toes [ more[]

  • Spondyloepiphyseal Dysplasia Congenita

    We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment[] Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately[] […] barrel-shaped thorax, a short neck, and mild ocular hypertelorism.[]

  • Dyggve-Melchior-Clausen Syndrome

    […] femoral neck Short neck of thighbone 0100864 Short metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Spondyloepimetaphyseal[] 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[] The neck is short.[]

  • Spondylocarpotarsal Synostosis

    neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[] Ver-tebral involvement, which is usually severe and maycause disproportionally short trunk/stature, is not as-sociated with any rib anomalies.[] Note the short stature, short trunk and neck, scoliosis, knee pterygium and neck webbing.[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[] Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and[] […] long bone Long bone shortening 0003026 Short neck Decreased length of neck 0000470 Short thorax Shorter than typical length between neck and abdomen 0010306 Thick eyebrow[]

  • Kniest Dysplasia

    Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[] They may also have craniofacial anomalies such as flat faces, bulging eyes, a short neck and/or cleft palate.[]

  • Spondylometaphyseal Dysplasia

    Affiliated tissues include bone, and related phenotypes are low-set ears and short neck[] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[] Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.[]

  • Mesomelic Dysplasia Type Langer

    Note short-limbed dysplasia, relative macrocephaly, and short neck.[] From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening[] Moreover, the clinical phenotype of SHOX mutations varies strongly and may range from severe disproportionate short stature to mild short stature with or without anomalies[]

  • Pelviscapular Dysplasia

    Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and short neck NIH Rare Diseases : 54 Cousin syndrome is a rare syndrome characterized[] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[] neck with redundant skin folds, low hairline, and mild psychomotor retardation.[]

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