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Definition

A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping.

Acronym

SEMD-SL

Synonyms

SMED short limb-abnormal calcification type
SMED short limb-hand type
SMED-SL
SMED-SL/AC
SMED type II
Spondylometaepiphyseal dysplasia short limb-abnormal calcification type
Spondylometaepiphyseal dysplasia short limb-hand type

Keywords

Dwarfism

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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Main funding by: National Institutes of Health

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