46,XX difference of sex development-skeletal anomalies syndrome

Orpha code: 2975OMIM code: 264270

Definition

A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.

Disease data
Classification

Malformation syndrome

Synonyms
Pseudohermafrodytyzm żeński - wady szkieletu
46,XX disorder of sex development-skeletal anomalies syndrome
ORPHA code
2975
OMIM code
264270
ICD10 code
Q56.2
ICD11 code
-

No additional description.

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