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Disorder of sex development - intellectual disability

Orpha number ORPHA2983
Synonym(s) Pseudohermaphroditism - intellectual disability
Verloes-Gillerot-Fryns syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Neonatal
ICD-10
  • Q56.3
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Verloes-Gillerot-Fryns syndrome is a rare association of malformations. It has been described in only three patients, including two sibs. The first patient had profound intellectual deficit. His general aspect clearly resembled that of individuals with Borjeson-Forssman-Lehmann syndrome, a rare X-linked recessive disorder. Clinical features included short stature, coarse face, deep set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sib was raised as a girl. She was slightly mentally impaired and had microphthalmia and large ears, and short stature. She had a complete uterus with tubae and a single intraabdominal gonad with testicular organization at birth. These were removed during infancy. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features resembling those of the Borjeson-Forssman-Lehmann syndrome and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked.


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