Orphanet: Disorder of sex development intellectual disability syndrome

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Disorder of sex development-intellectual disability syndrome

Disease 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.

ORPHA:2983

Classification level: Disorder

Synonym(s):
- Verloes-Gillerot-Fryns syndrome
Prevalence: <1 / 1 000 000
Inheritance: Unknown
Age of onset: Neonatal
ICD-10: Q56.3
OMIM: 600122
UMLS: C2931233
MeSH: -
GARD: 4550
MedDRA: -

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Disorder of sex development-intellectual disability syndrome

ORPHA:2983

A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2020) Français (2020) Nederlands (2020)

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