Medical Information

Click on the condition you want to learn more about. Note that the complications listed are possible complications only. They will not all occur.

  • Kniest Syndrome . Kniest is called Metatropic Type II. Kniest is very different condition than metatropic dwarfism.
  • Spondyloepiphyseal dysplasias (SED):
    SED Congenita (SEDC)
    SED Tarda, SED X-Linked
    SED-Toledo type
  • Spondylometaphyseal dysplasias (SMD):
    Spondylometaphyseal Dysplasia Corner Fracture Type
    Spondylometaphyseal Dysplasia Kozlowski Type (SMD-K)
    Spondylometaphyseal Dysplasia X-Linked

Some of the pages referenced here are very technical. These pages are a good source of a summary of current information, as well a place to find the titles of related papers. It can also be helpful to print these out and share them with your medical provider. Please contact us if you have any questions.

Skeletal Dysplasia Clinics

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Kniest Links

  • Read a fact sheet about Kniest written by the web page authors.
  • Office of Rare Diseases Kniest Page . You can look up clinical trials, find journal articles, research government services, find support groups, learn about genetics, look up conferences and more. This government sponsored page is updated regularly.

Journal Articles About Kniest, selected science magazine articles

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A photo of a girl with Kniest Skeletal Dysplasia
A photo of girl with Kniest Skeletal Dysplasia.

All photographs on this Web site are the copyrighted property of the individuals pictured, and have been posted with their permission. All rights reserved. To obtain legal copies of these photographs for any purpose whatsoever, email support@ksginfo.org.

Spondyloepiphyseal Dysplasia (SED) Links

Spondyloepiphyseal Dysplasia Congenita (SEDC)

Journal Articles About Spondyloepiphyseal Dysplasia Congenita, selected science magazine articles

A photo of toddler with Kniest.
This photo was taken at a KSG event. The baby is picking raffle tickets.
A photo of toddler with Kniest.
This photo was taken at a KSG event. The baby is picking raffle tickets.

All photographs on this Web site are the copyrighted property of the individuals pictured, and have been posted with their permission. All rights reserved. To obtain legal copies of these photographs for any purpose whatsoever, email support@ksginfo.org.

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Spondyloepiphyseal Dysplasia Tarda Links

Journal Articles About SEDT, selected science magazine articles

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Spondyloepiphyseal Dysplasia Toledo Type Links

Spondylometaphyseal Dysplasia (SMD) Links

Spondylometaphyseal Dysplasia Corner Fracture Type

Journal Articles About Spondylometaphyseal Dysplasia Corner Fracture Type, selected science magazine articles

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Spondylometaphyseal Dysplasia Kozlowski Type

Journal Articles About Spondylometaphyseal Dysplasia Corner Fracture Type, selected science magazine articles

A mutation that causes SMD-K may involved the genes which have instructions for making type 10 collagen:

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Spondylometaphyseal Dysplasia X-Linked

  • SMD – X-linked also known as SMD-Richmond Type (#313420) or the Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes page for X-linked SMD.

    This condition was generalized from one family. The symptoms here are not correlated with other forms of SMD. The gene (or genes) for this condition has not been found, and mental retardation is thought to be associated, but not necessarily caused by this type of SMD. People with other forms of SMD usually have normal intelligence.

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Wagner-Strickler Dysplasia

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Other Forms of SED and SMD

Metatropic Dysplasia Links

  • National Organization for Rare Disorder’s Metatropic Dysplasia type I page
  • Office of Rare Diseases Metatropic Dysplasia Page . You can look up clinical trials, find journal articles, research government services, find support groups, look up conferences and more. This government sponsored page is updated regularly.

Ulna Metaphyseal Dysplasia Links

Spondyloepimetaphyseal Dysplasia Strudwick Dysplasia Links

  • Spondyloepimetaphyseal type Strudwick or Spondylometaphyseal type Strudwick SMED – Strudwick type also known as SEMD – Strudwick type (#184250) (To confuse matters more, this condition is also sometimes known as SMD Strudwick, though there are changes in BOTH the epiphyseal and metaphyseal bone layers)

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Group photo at a KSG event
Group photo at a KSG event

All photographs on this Web site are the copyrighted property of the individuals pictured, and have been posted with their permission. All rights reserved. To obtain legal copies of these photographs for any purpose whatsoever, email support@ksginfo.org.