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55 Possible Causes for Short Stature - Postnatal Onset

  • Noonan Syndrome

    It is characterized by postnatal-onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities[ncbi.nlm.nih.gov] It is characterized by postnatalonset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities[doi.org]

  • Schwartz-Jampel Syndrome

    Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage[…][ncbi.nlm.nih.gov]

  • Joint Subluxation

    Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes[ncbi.nlm.nih.gov]

  • Bruck Syndrome

    Get Update Overview Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe[diseaseinfosearch.org] OMIM : 58 Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb[malacards.org] OMIM : 57 Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb[malacards.org]

  • Hypogonadotropic Hypogonadism Type 18

    […] of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis ( McPherson and Clemens, 1997 ).[mendelian.co] MONDO NCIT More info about OSTEOGENESIS IMPERFECTA, TYPE III; OI3 Low match BRUCK SYNDROME 1; BRKS1 Bruck syndrome is characterized by congenital contractures with pterygia, onset[mendelian.co]

  • Familial Short Stature

    A common alternative definition is similar to that for postnatal onset of short stature: two standard deviations below the average for the gestational age and sex.[nature.com]

  • Bloom Syndrome

    These patients often have prenatal or postnatal growth retardation, short stature, malar hypoplasia, telangiectatic erythema of the face and other regions, hypo- and hyperpigmentation[mayomedicallaboratories.com] The severity and age of onset of cancer varies among patients.[mayomedicallaboratories.com] Approximately one-fourth to one-half of patients develop some type of cancer with a mean age of 25 years at onset.[mayomedicallaboratories.com]

  • Pyle's Disease

    Clinical Synopsis: INHERITANCE: Autosomal dominant GROWTH: [Height]; Severe short stature, postnatal onset; Average adult height 125cm HEAD AND NECK: [Head]; Brachycephaly[genome.jp]

  • Kuskokwim Disease

    OMIM : 58 Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb[malacards.org] Clemens, 1997). (259450) UniProtKB/Swiss-Prot : 76 Bruck syndrome 1: A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset[malacards.org]

  • Other Specified Osteochondrodysplasias

    Definition An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset.[uniprot.org] UniProtKB/Swiss-Prot : 75 Acrocapitofemoral dysplasia: An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset.[malacards.org] stature of variable severity with postnatal onset.[genecards.org]

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