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microcephaly-glomerulonephritis-marfanoid habitus syndrome

MeSH: C565411ORPHA: 2172

Contents

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

Overview

This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis

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 microcephaly-glomerulonephritis-marfanoid habitus syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityGlomerulonephritisHigh palateMandibular prognathiaArachnodactylyDisproportionate tall statureVentriculomegalyModerate intellectual disabilityThoracic kyphosisPrimary microcephalyChronic kidney disease

Classification & Codes

MeSH Code

C565411

Orphanet Code

ORPHA:2172
microcephaly-glomerulonephritis-marfanoid habitus syndrome
MeSHC565411
OrphanetORPHA:2172
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO