Spondylometaphyseal dysplasia

Classification according to ICD-10
Q77.8	Other osteochondrodysplasias with growth disorders of the long bones and the spine
ICD-10 online (WHO version 2019)

The Spondylometaphyseal dysplasia (SMD) refers to a group of heritable disorders of the vertebral development ( "spondylo") and the long bone in the metaphysis .

The diseases become noticeable in the 2nd year of life due to growth disorders and gait changes.

The frequency is given as about 1 in 100,000.

Common features are generalized platyspondyly and changes in the metaphyses mainly of the hip and knee joint.

The following forms are usually distinguished based on the location and severity of the bony changes:

• SMD type Kozlowski , inherited as an autosomal dominant , most common form

• SMD type Sutcliffe , inherited in an autosomal dominant manner, with severe coxa vara

• SMD type Schmidt or Algerian type, inherited in an autosomal dominant manner, with heavy genu valgum

• SMD with a short ulna , inherited as an autosomal dominant trait

• Sedaghatian type , autosomal - recessive inheritance
• SMD type Mégarbané , inherited as an autosomal recessive trait
• SMD with enchondromatous changes or spondyloenchondral dysplasia, inherited in an autosomal recessive manner, with enchondromatic changes
• SMD with cone-rod dystrophy , inherited as an autosomal recessive trait

The disease previously known as spondylometaphyseal dysplasia with combined immunodeficiency is now called spondyloenchondral dysplasia .

Individual evidence

1. ^ Spondylometaphyseal dysplasia. In: Orphanet (Rare Disease Database).
2. ↑ Dysplasia, spondylometaphyseal, Kozlowski type. In: Orphanet (Rare Disease Database).
3. ↑ Dysplasia, spondylometaphyseal, corner fracture type. In: Orphanet (Rare Disease Database).
4. ↑ Dysplasia, spondylometaphyseal, Schmidt type. In: Orphanet (Rare Disease Database).
5. ↑ Dysplasia, peripheral spondylometaphyseal with short ulna. In: Orphanet (Rare Disease Database).
6. ^ Dysplasia, spondylometaphyseal, Sedaghatian type. In: Orphanet (Rare Disease Database).
7. ↑ Dysplasia, spondylometaphyseal, autosomal recessive, Mégarbané type. In: Orphanet (Rare Disease Database).
8. ↑ Dysplasia, spondyloenchondral. In: Orphanet (Rare Disease Database).
9. ↑ Dysplasia, spondylometaphyseal-cone-rod dystrophy. In: Orphanet (Rare Disease Database).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !