Blomstrand lethal chondrodysplasia

Orpha code: 50945OMIM code: 215045

Definition

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

Disease data
Classification

Malformation syndrome

Synonyms
BLC
BLC
Śmiertelna chondrodysplazja Blomstranda
Letalna chondrodysplazja Blomstranda
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type
ORPHA code
50945
OMIM code
215045
ICD10 code
Q78.8
ICD11 code
-

No additional description.

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