SynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Coffin-Siris syndrome
Other Resources UpToDate PubMed

Coffin-Siris syndrome

Contributors: David Sullo MD
Other Resources UpToDate PubMed


A rare genetic disorder that results in mild to profound developmental delay. Four times more common in females. Most patients can be identified at birth by a hypoplastic fifth digit with absent or undeveloped nails, though all digits may be affected. Common facial abnormalities include coarse facies, broad nasal bridge and tip, a wide mouth with full, everted lips, bushy eyebrows, long eyelashes, abnormal ears, and an elongated philtrum. Typical presentation may also include hirsutism, microcephaly, joint laxity, intrauterine growth retardation, short stature, hearing loss, failure to thrive, respiratory infections, seizures, and sparse scalp hair along with a variety of cardiac, gastrointestinal, renal, and genitourinary anomalies.

Therapy is individualized to increase developmental outcomes, and some patients require surgery to correct abnormalities.


Q89.8 – Other specified congenital malformations

10007009 – Coffin-Siris Syndrome

Differential Diagnosis & Pitfalls

  • Coffin-Lowry syndrome
  • Cornelia de Lange syndrome
  • 4q monosomy
  • Mosaic trisomy 9
  • Fetal hydantoin syndrome

Best Tests

Subscription Required


Subscription Required

Last Updated:06/15/2022
Copyright © 2024 VisualDx®. All rights reserved.
Coffin-Siris syndrome
A medical illustration showing key findings of Coffin-Siris syndrome : Failure to thrive, Hearing loss, Microcephaly, Nasal bridge wide, Short stature, Hypoplastic 5th distal phalange
Copyright © 2024 VisualDx®. All rights reserved.