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splenogonadal fusion-limb defects-micrognathia syndrome

MeSH: C537318ORPHA: 2063

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 splenogonadal fusion-limb defects-micrognathia syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaAbnormality of the skinHip dysplasiaPremature birthAbnormality of the kneeAbnormality of the upper limbAbnormal femur morphologyAbnormal fibula morphologyAbnormality of the wristCryptorchidismMicrognathiaLower limb asymmetryUpper limb asymmetryAbnormal palate morphologyNarrow palatePosteriorly rotated earsCongenital diaphragmatic herniaSeizurePlagiocephalyAnal atresiaAbnormal lung lobationAbnormality of neuronal migrationMultiple unerupted teethCrowded maxillary incisorsAplasia/Hypoplasia of the lungsTooth agenesisAbnormal cardiovascular system morphologyCognitive impairment

Classification & Codes

MeSH Code

C537318

Orphanet Code

ORPHA:2063
splenogonadal fusion-limb defects-micrognathia syndrome
MeSHC537318
OrphanetORPHA:2063
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO