OrphanDrug
OrphanDrug
Pharma Knowledge Base

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

MeSH: C564510ORPHA: 85280

Contents

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

Overview

, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.

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 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.

High palateMicrocephalyMalar flatteningShort philtrumDeeply set eyeDownslanted palpebral fissuresPectus excavatumMelanocytic nevusTapered fingerSeizureTruncal obesityAbnormal facial shapeModerate intellectual disabilityDownturned corners of mouthCubitus valgusShort statureBilateral single transverse palmar creases

Classification & Codes

MeSH Code

C564510

Orphanet Code

ORPHA:85280
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
MeSHC564510
OrphanetORPHA:85280
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO