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Aplasia cutis congenita-intestinal lymphangiectasia syndrome

MeSH: C537788ORPHA: 1116

Contents

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

Overview

medical condition

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 Aplasia cutis congenita-intestinal lymphangiectasia syndrome, sourced from HPO and Orphanet clinical annotations.

MyopiaChorioretinal colobomaLymphedemaCalvarial skull defectDecreased total lymphocyte countAbnormal bleedingAbnormality of coagulationMalabsorptionHypoproteinemiaClinodactyly of the 5th fingerDecreased circulating immunoglobulin concentrationBilateral single transverse palmar creasesAbnormal hair quantity

Classification & Codes

MeSH Code

C537788

Orphanet Code

ORPHA:1116
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
MeSHC537788
OrphanetORPHA:1116
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO