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holoprosencephaly-hypokinesia-congenital contractures syndrome

MeSH: C564409ORPHA: 2570

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 holoprosencephaly-hypokinesia-congenital contractures syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalySloping foreheadMicrognathiaLow-set earsShort neckDeeply set eyeBlepharophimosisAdducted thumbHoloprosencephalyLimitation of joint mobilityIntrauterine growth retardationDecreased fetal movementAbnormal pleura morphologyCerebral cortical atrophyHydranencephalyMultiple joint contracturesAplasia/Hypoplasia of the lungsAplasia/Hypoplasia of the cerebellumAplasia/Hypoplasia of the corpus callosumAbnormal dermatoglyphicsRenal hypoplasia/aplasiaAbnormal diencephalon morphologyCamptodactyly of fingerEnlarged thorax

Classification & Codes

MeSH Code

C564409

Orphanet Code

ORPHA:2570
holoprosencephaly-hypokinesia-congenital contractures syndrome
MeSHC564409
OrphanetORPHA:2570
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO