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blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

MeSH: C536235ORPHA: 2057

Contents

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

Overview

very rare genetic disorder

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 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome, sourced from HPO and Orphanet clinical annotations.

Thick lower lip vermilionMandibular prognathiaHypertelorismAnosmiaPtosisEsotropiaThick eyebrowBlepharophimosisSynophrysAbnormal cranial nerve morphologyHighly arched eyebrowShort statureBorderline intellectual disability

Classification & Codes

MeSH Code

C536235

Orphanet Code

ORPHA:2057
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
MeSHC536235
OrphanetORPHA:2057
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO