LD2F.15

ICD-11 MMS 2026-01

Noonan syndrome

Description

Noonan Syndrome is characterised by short stature, facial dysmorphism and congenital heart defects. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasia. The syndrome is transmitted as an autosomal dominant trait.

Index terms

  • Noonan syndrome

Exclusions from above levels

  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD2F.10 – Prune belly syndrome
  • LD2F.11 – VATER association
  • LD2F.12 – Sirenomelia
  • LD2F.13 – Meckel-Gruber syndrome
  • LD2F.14 – MURCS association
  • LD2F.16 – Otomandibular dysplasia
  • LD2F.1Y – Other specified syndromes with multiple structural anomalies, not of environmental origin
  • LD2F.1Z – Syndromes with multiple structural anomalies, not of environmental origin, unspecified

Foundation entity

Noonan syndrome – http://id.who.int/icd/entity/1044395354

Part of: LD2F.1: Syndromes with multiple structural anomalies, not of environmental origin › LD2F: Syndromes with multiple structural anomalies, without predominant body system involvement › 20: Developmental anomalies