COFS syndrome

MONDO:0008926

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

Also known as: COFS, Cerebro Oculo Facio Skeletal Syndrome, Pena-Shokeir syndrome type 2, cerebro-oculo-facio-skeletal syndrome, cerebrooculofacioskeletal syndrome

4 clinical trials for this condition and its sub-types, 1 tagged with COFS syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (995) ↑ DNA repair disease (105) ↑ Syndromic microphthalmia (11)

Sub-types of COFS syndrome

Cerebrooculofacioskeletal syndrome 1 0 trials
Cerebrooculofacioskeletal syndrome 2 0 trials
Cerebrooculofacioskeletal syndrome 3 0 trials
Cerebrooculofacioskeletal syndrome 4 0 trials
Xeroderma pigmentosum group G 0 trials

Including sub-types (4) Tagged with COFS syndrome (1)

Not yet finished but already full! 1

Which reversal drug causes fewer bathroom problems after surgery?

Knowledge-focused Ongoing

This study reviewed records of 70,000 adults who had non-urinary surgery under general anesthesia. It compared two drugs used to reverse muscle relaxants: sugammadex and neostigmine (given with atropine or glycopyrrolate). The goal was to see which drug is linked to fewer cases o…

Sponsor: Beth Israel Deaconess Medical Center • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:13 UTC

COFS syndrome

Where it sits in the disease tree

Which reversal drug causes fewer bathroom problems after surgery?