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Potocki–Shaffer syndrome

MeSH: C538356ORPHA: 52022

Contents

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

Overview

human disease

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 Potocki–Shaffer syndrome, sourced from HPO and Orphanet clinical annotations.

MicropenisBrachycephalyEpicanthusShort philtrumMicrognathiaProminent nasal bridgeUnderdeveloped nasal alaeDepressed nasal tipBroad nasal tipStrabismusNystagmusHypothyroidismHypertensionDelayed pubertyIntellectual disabilitySeizureGlobal developmental delayAnemiaNephroblastomaParietal foraminaDownturned corners of mouthDecreased skull ossificationExostoses

Classification & Codes

MeSH Code

C538356

Orphanet Code

ORPHA:52022
Potocki–Shaffer syndrome
MeSHC538356
OrphanetORPHA:52022
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO