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lethal faciocardiomelic dysplasia

MeSH: C565578ORPHA: 1972

Contents

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

Overview

Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome

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 lethal faciocardiomelic dysplasia, sourced from HPO and Orphanet clinical annotations.

Narrow mouthMicroglossiaMicroretrognathiaIntrauterine growth retardationPatent ductus arteriosusSandal gapHypoplasia of the radiusHypoplasia of the ulnaFibular hypoplasiaRadial ray deficiencyHypoplastic left ventricleShort tibiaBilateral single transverse palmar creasesShort 5th fingerShort thumb

Classification & Codes

MeSH Code

C565578

Orphanet Code

ORPHA:1972
lethal faciocardiomelic dysplasia
MeSHC565578
OrphanetORPHA:1972
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO