OrphanDrug
OrphanDrug
Pharma Knowledge Base

short-limb skeletal dysplasia with severe combined immunodeficiency

MeSH: C536020ORPHA: 935

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 short-limb skeletal dysplasia with severe combined immunodeficiency, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaPectus excavatumAbnormal metaphysis morphologyAbnormality of the pancreasDecreased total lymphocyte countAnemiaMalabsorptionRecurrent respiratory infectionsFine hairAganglionic megacolonLong fibulaReduced bone mineral densityBiparietal narrowingSevere combined immunodeficiencyAgammaglobulinemiaCellular immunodeficiencyWhite hairCognitive impairment

Classification & Codes

MeSH Code

C536020

Orphanet Code

ORPHA:935
short-limb skeletal dysplasia with severe combined immunodeficiency
MeSHC536020
OrphanetORPHA:935
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO