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Amish lethal microcephaly

MeSH: C538247ORPHA: 99742

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Amish lethal microcephaly, sourced from HPO and Orphanet clinical annotations.

Cleft soft palateMicrocephalySloping foreheadMicrognathiaOptic atrophyIrritabilityOsteoporosisHypotoniaAgenesis of corpus callosumCerebellar vermis hypoplasiaLissencephalyLimitation of joint mobilityDecreased fetal movementMetabolic acidosisOrganic aciduriaBilateral tonic-clonic seizureVentriculomegalyHepatomegalySpina bifidaLimb hypertoniaDecreased skull ossificationTemperature instabilitySevere global developmental delayFeeding difficulties

Classification & Codes

MeSH Code

C538247

Orphanet Code

ORPHA:99742
Amish lethal microcephaly
MeSHC538247
OrphanetORPHA:99742
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO