Thanatophoric dysplasia

Orpha code: 2655OMIM code: 187601

Definition

A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.

Disease data
Classification

Disease

Synonyms
TD
Karłowatość tanatoforyczna
TD
ORPHA code
2655
OMIM code
187601
ICD10 code
Q77.1
ICD11 code
LD24.02

No additional description.

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