Difference of sex development-intellectual disability syndrome

Orpha code: 2983OMIM code: 600122

Definition

A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.

Disease data
Classification

Disease

Synonyms
Verloes-Gillerot-Fryns syndrome
Pseudohermafrodytyzm - upośledzenie umysłowe
Zespół Verloesa, Gillerota i Frynsa
Disorder of sex development-intellectual disability syndrome
ORPHA code
2983
OMIM code
600122
ICD10 code
Q56.3
ICD11 code
-

No additional description.

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