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Craniosynostosis–anal anomalies–porokeratosis syndrome

MeSH: C536789ORPHA: 85199

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 Craniosynostosis–anal anomalies–porokeratosis syndrome, sourced from HPO and Orphanet clinical annotations.

HypospadiasAbnormal palate morphologyBrachycephalyWide anterior fontanelDelayed cranial suture closureAbsent eyelashesAbnormal dental enamel morphologyAbnormal clavicle morphologyEczematoid dermatitisFrontal bossingAnal atresiaAbsent eyebrowParietal foraminaDelayed skeletal maturationEctopic anusCoronal craniosynostosisLarge posterior fontanelleAbnormal dental morphologyAplastic clavicleTarsal synostosisShort thoraxThin fingernailUrogenital fistulaPorokeratosisWide mouthMalar flatteningMicrognathiaHearing impairmentProptosisIntellectual disabilityGlobal developmental delayThick vermilion borderCleft palatePlagiocephalyKyphosis

Classification & Codes

MeSH Code

C536789

Orphanet Code

ORPHA:85199
Craniosynostosis–anal anomalies–porokeratosis syndrome
MeSHC536789
OrphanetORPHA:85199
Treatments0 drug(s)
Symptoms on record35 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO