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Start free with EleplanSpondyloepimetaphyseal dysplasia, Shohat type
ORPHA:93352Disease
Also called SEMD, Shohat type
What it is
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
14- Abnormality of epiphysis morphology
- Abnormal vertebral morphology
- Arthralgia
- Central vertebral hypoplasia
- Disproportionate short stature
- Flared metaphysis
- Generalized bone demineralization
- Metaphyseal widening
- Platyspondyly
- Premature osteoarthritis
- Scoliosis
- Severe short stature
- Short long bone
- Thoracic hypoplasia
Sometimes5–29%
19- Abdominal distention
- Abnormal bronchus morphology
- Bowing of the legs
- Delayed epiphyseal ossification
- Fibular overgrowth
- Genu varum
- Hepatosplenomegaly
- Hoarse voice
and 11 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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