OrphanDrug
OrphanDrug
Pharma Knowledge Base

distal 17p13.1 microdeletion syndrome

ORPHA: 319171

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 distal 17p13.1 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyRetrognathiaTriangular faceProminent nasal bridgeMotor delayAbnormal facial shapePostural instabilityFloppy infantIncreased overbiteModerate global developmental delayHigh palateNarrow foreheadProtruding earDeeply set eyeArachnodactylyGeneralized joint hypermobilityLimited elbow movementFlat occiputAbnormal hand morphologyUnilateral polymicrogyriaLimitation of knee mobilityHypoplasia of the zygomatic boneEEG with spike-wave complexes

Classification & Codes

Orphanet Code

ORPHA:319171
distal 17p13.1 microdeletion syndrome
OrphanetORPHA:319171
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
distal 17p13.1 microdeletion syndrome | OrphanDrug