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X-linked Opitz G/BBB syndrome

Last revised by Subhan Iqbal on 12 Mar 2022

Citation, DOI, disclosures and article data

Citation:

Skandhan A, Iqbal S, Rasuli B, et al. X-linked Opitz G/BBB syndrome. Reference article, Radiopaedia.org (Accessed on 20 May 2024) https://doi.org/10.53347/rID-32601

DOI:

https://doi.org/10.53347/rID-32601

Permalink:

https://radiopaedia.org/articles/32601

rID:

32601

Article created:

4 Dec 2014, Avni K P Skandhan

Disclosures:

At the time the article was created Avni K P Skandhan had no recorded disclosures.

View Avni K P Skandhan's current disclosures

Last revised:

12 Mar 2022, Subhan Iqbal

Disclosures:

At the time the article was last revised Subhan Iqbal had no recorded disclosures.

View Subhan Iqbal's current disclosures

Revisions:

8 times, by 7 contributors - see full revision history and disclosures

Sections:

Syndromes

Tags:

stubs, refs

Synonyms:

Opitz syndrome
Hypospadias dysphagia syndrome
Opitz G/ BBB syndrome
Hypertelorism with esophageal abnormality and hypospadias G syndrome
X-linked Opitz G/BBB syndrome (XLOS)

X-linked Opitz G/BBB syndrome (XLOS) is an x-linked disorder with a spectrum of congenital anomalies. Anomalies that may be seen are:

facial anomalies
- ocular hypertelorism
- prominent forehead
- widow's peak
- broad nasal bridge
- anteverted nares
- cleft lip and/or palate
laryngotracheoesophageal defects
genitourinary abnormalities
- hypospadias
- cryptorchidism
- hypoplastic scrotum
- bifid scrotum
congenital hearing defects
imperforate or ectopic anus
midline brain defects
- Dandy-Walker malformation
- agenesis or hypoplasia of corpus callosum and/or cerebellar vermis