Definition
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.
Definition
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.
Disease data
Classification
Malformation syndrome
Synonyms
Campomelic dwarfism
Karłowatość kampomeliczna
ORPHA code
140
OMIM code
602196
ICD10 code
Q87.1
ICD11 code
LD2A.Y
No additional description.
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