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Pascual-Castroviejo syndrome

MeSH: C565862ORPHA: 1394

Contents

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

Overview

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities

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 Pascual-Castroviejo syndrome, sourced from HPO and Orphanet clinical annotations.

Wide mouthBrachycephalyBroad philtrumHypertelorismWide noseShort neckThick eyebrowNarrow chestBifid ribsRib fusionIntellectual disabilityHypoplasia of the corpus callosumHemivertebraeMidface retrusionMacrocephalyEpicanthusStrabismusDownslanted palpebral fissuresSynophrysSprengel anomalyCerebellar vermis hypoplasiaPolyhydramniosVentriculomegalyCerebral cortical atrophyLow posterior hairlineCoarse hairScoliosisShort noseVertebral segmentation defectShort statureAbnormal hair patternHerniaCleft palateCleft upper lipPosteriorly rotated ears

Classification & Codes

MeSH Code

C565862

Orphanet Code

ORPHA:1394
Pascual-Castroviejo syndrome
MeSHC565862
OrphanetORPHA:1394
Treatments0 drug(s)
Symptoms on record35 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO