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X-linked intellectual disability-craniofacioskeletal syndrome

MeSH: C567471ORPHA: 163979

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 X-linked intellectual disability-craniofacioskeletal syndrome, sourced from HPO and Orphanet clinical annotations.

Thin upper lip vermilionMicrocephalyShort philtrumShort chinPosteriorly rotated earsUnderdeveloped nasal alaeMild intellectual disabilityBilateral ptosisPes planusToe clinodactylyShort statureShort 5th fingerOverhanging nasal tipCryptorchidismHypospadiasMicropenisHydronephrosisCleft palateHydrocephalusBroad foreheadChoanal atresiaDownslanted palpebral fissuresProptosisUpslanted palpebral fissureHyperextensibility of the finger jointsCerebellar hypoplasiaVentricular septal defectAtrial septal defectPatent ductus arteriosusBulbous tips of toesRocker bottom footThrombocytopeniaAnemiaRespiratory insufficiencyIntracranial hemorrhageBroad skullTracheal stenosisHypocalcemiaHyperbilirubinemia2-3 toe syndactylyCapillary hemangiomaWide intermamillary distanceAplasia/Hypoplasia of the nailsMicrotiaLong toeAbsent gallbladderInterrupted aortic archHeart murmur

Classification & Codes

MeSH Code

C567471

Orphanet Code

ORPHA:163979
X-linked intellectual disability-craniofacioskeletal syndrome
MeSHC567471
OrphanetORPHA:163979
Treatments0 drug(s)
Symptoms on record48 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO