LD20.2

ICD-11 MMS 2026-01

Syndromes with microcephaly as a major feature

Description

Developmental syndromes in which an abnormally small head size is a significant feature.

Index terms

  • Syndromes with microcephaly as a major feature
  • Microcephaly - cervical spine fusion anomalies
  • Microcephaly - brain defect - spasticity - hypernatremia
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  • Microcephaly-microcornea syndrome, Seemanova type
  • Microcephaly, Amish type
  • Mitochondrial thiamine pyrophosphate carrier deficiency
  • Bowen-Conradi syndrome
  • Severe neonatal-onset encephalopathy with microcephaly
  • Congenital intrauterine infection-like syndrome
  • Pseudo-TORCH syndrome
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3
  • MOPD - [microcephalic osteodysplastic primordial dwarfism] types 1 and 3
  • Microcephalic osteodysplastic primordial short stature types 1 and 3
  • Microcephalic osteodysplastic primordial dwarfism type 2
  • MPOD - [microcephalic osteodysplastic primordial dwarfism] type 2
  • Microcephalic osteodysplastic primordial dwarfism type II
  • Microcephalic osteodysplastic primordial short stature type 2
  • Intellectual development disorder and microcephaly with pontine and cerebellar hypoplasia
  • MICPCH - [mental retardation and microcephaly with pontine and cerebellar hypoplasia]

Exclusions from above levels

  • LD2F.13 – Meckel syndrome
  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD20.0 – Syndromes with cerebellar anomalies as a major feature
  • LD20.1 – Syndromes with lissencephaly as a major feature
  • LD20.3 – Syndromes with holoprosencephaly as a major feature
  • LD20.4 – Syndromes with brain calcifications as a major feature
  • LD20.Y – Other specified syndromes with central nervous system anomalies as a major feature
  • LD20.Z – Syndromes with central nervous system anomalies as a major feature, unspecified

Foundation entity

Syndromes with microcephaly as a major feature – http://id.who.int/icd/entity/2011102370

Part of: LD20: Syndromes with central nervous system anomalies as a major feature › 20: Developmental anomalies