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218 Possible Causes for Congenital Pectus Carinatum, Possibly Scoliosis, Tall Stature

Did you mean: Congenital Pectus Carinatum, Possibly, Scoliosis, Tall Stature

  • Marfan Syndrome

    Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years.[nlm.nih.gov] It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens A hereditary disorder[icd9data.com] Treatment Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years.[mountsinai.org]

  • Homocystinuria

    The two diseases should be differentiated because of the thrombotic risk in homocystinuria, and also because in this disease there is a possibility of treating the biochemical[online.boneandjoint.org.uk] Autosomal recessive disease caused by cystathionine synthase deficiency Patients normal at birth, then begin to develop developmental delays History / PE : Marfan features (tall[medlibes.com] Presentation Skeletal features: Marfanoid habitus with normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched[patient.info]

  • Osteogenesis Imperfecta

    scoliosis Stature should not be affected much, if at all Possible hearing loss that usually occurs in the third or fourth decade of life Triangular shaped face Very mild[physio-pedia.com] […] compression fractures codfish vertebrae platyspondyly chest pectus excavatum or carinatum pelvis acetabular protrusio coxa vara general severe osteoporosis deformed, gracile[radiopaedia.org] Some of the characteristics of Type III OI include: Short stature (some people only grow three feet tall) Sclera have a blue, purple, or gray tint Soft bones that not only[clevelandclinic.org]

  • Turner Syndrome

    Scoliosis The incidence of scoliosis in TS patients was 0.69%, compared with 0.39% among non-TS patients.[doi.org] .: Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.[link.springer.com] Clinical features in Klinefelter syndrome include tall stature, gynecomastia and small testicles post puberty and azoospermia.[meddean.luc.edu]

  • Spondylometaphyseal Dysplasia

    Spondylometaphyseal dysplasia is an extremely rare genetic disorder of the bones, primarily involving the axial skeleton, with short stature, abnormally shaped vertebrae, and scoliosis[symptoma.com] This paper reports three children with short stature: developmental coxa vara unilateral in the first case and bilateral in the other two; somewhat squared and "ovoid" vertebral[ncbi.nlm.nih.gov] SMD Kozlowski type (SMDK) is a well-defined autosomal-dominant SMD characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis.[ncbi.nlm.nih.gov]

  • King Syndrome

    KS is a progressive condition and is characterized by worsening myopathy which may first appear as developmental delay in the motor domain, kyphosis, scoliosis, winged scapula[symptoma.com] Syndrome Buschke-Ollendorff Syndrome Camera Marugo Cohen Syndrome camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-Ichthyosis Syndrome camptodactyly-tall[rgd.mcw.edu] […] motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis[ebi.ac.uk]

  • Hereditary Hyperphosphatasia

    Lissencephaly, X-linked type 1 DCX Lissencephaly, X-linked type 2 ARX Lujan-Fryns syndrome MED12 Lymphedema-distichiasis syndrome FOXC2 Macrocephaly, alopecia, cutis laxa, and scoliosis[centogene.com] stature and hearing loss syndrome) FGFR3 CBL syndrome CBL Cchondrodystrophy with sensineural deafness COL2A1 del, COL11A2 Central hypoventilation syndrome, congenital (CCHS[uniklinik-freiburg.de] Scoliosis is usually m a r k e d with resultant shortening of the trunk.[slideheaven.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Other Possible Symptoms Curved spine, called scoliosis Ear infections Early puberty Farsightedness Hernia High levels of calcium in the blood Hoarse voice Joint and bone problems[webmd.com] Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects[raredisorders.imedpub.com] Search terms included short stature, tall stature, and growth hormone.[aafp.org]

  • Congenital Contractural Arachnodactyly

    Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs.[ncbi.nlm.nih.gov] […] bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum).[snpedia.com] Marfanoid habitus : Tall stature, arachnodactyly, arm span height. Other features : include laxity of patella, pectus and keratoconus.[genetics4medics.com]

  • Stickler Syndrome

    Although common, scoliosis is generally self-limited (only one patient needed surgical treatment).[ncbi.nlm.nih.gov] carinatum Craniodiaphyseal dysplasia Spastic paraplegia 17 Autosomal dominant intermediate Charcot-Marie-Tooth RFT1-CDG (CDG-In) Boomerang dysplasia Reardon Wilson Cavanagh[checkrare.com] We describe a tall-statured 14-year-old boy who illustrated the full phenotypic and radiographic features of Stickler syndrome type I.[ncbi.nlm.nih.gov]

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