Don’t fight Male pseudohermaphroditism intellectual disability syndrome, Verloes type alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2983
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!