Coffin-Siris syndrome

MONDO:0015452

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

Also known as: CSS, Coffin-Siris syndrome, intellectual disability with absent fifth fingernail and terminal phalanx

1 clinical trial for this condition and its sub-types, 1 tagged with Coffin-Siris syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Hereditary disease (18187) ↑ Skeletal system disorder (9715) ↑ Syndromic disease (7133) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Sub-types of Coffin-Siris syndrome

Coffin-Siris syndrome 1 0 trials
Coffin-Siris syndrome 10 0 trials
Coffin-Siris syndrome 11 0 trials
Coffin-Siris syndrome 12 0 trials
Coffin-Siris syndrome 5 0 trials
Coffin-Siris syndrome 7 0 trials
Coffin-Siris syndrome 8 0 trials
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 trials
Intellectual disability, autosomal dominant 14 0 trials
Intellectual disability, autosomal dominant 15 0 trials
Intellectual disability, autosomal dominant 16 0 trials

Including sub-types (1) Tagged with Coffin-Siris syndrome (1)

Completed 1

New team-based health centres: do they work for patients?

Knowledge-focused Completed

This study looked at how patients and healthcare professionals experienced a new way of organizing primary care, where different health workers work together as a team. Researchers interviewed 48 patients and staff at one health centre in France. The goal was to understand what w…

Sponsor: Assistance Publique Hopitaux De Marseille • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:05 UTC

Coffin-Siris syndrome

Where it sits in the disease tree

New team-based health centres: do they work for patients?