chromosome 17q23.1-q23.2 deletion syndrome
ORPHA: 261279
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 chromosome 17q23.1-q23.2 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Shawl scrotumNarrow mouthMicrocephalyMalar flatteningEpicanthusHypertelorismHearing impairmentChronic otitis mediaProtruding earBulbous noseStrabismusBlepharitisLong eyelashesWidely spaced teethAtypical behaviorDelayed speech and language developmentSacral dimpleHypotoniaHyperreflexiaLimitation of joint mobilityFailure to thriveIntrauterine growth retardationAtrial septal defectPatent ductus arteriosusPes planusSandal gapFrontal bossingGastroesophageal refluxPulmonary arterial hypertensionDyspneaHighly arched eyebrowScoliosisCongenital contracturePatellar hypoplasiaShallow acetabular fossaeCoxa magnaClinodactyly of the 5th fingerShort statureDepressed nasal bridgeAbnormal epiphysis morphologyBilateral single transverse palmar creasesLong toeMild global developmental delayModerate global developmental delayBifid noseLong fingers
Classification & Codes
Orphanet Code
ORPHA:261279chromosome 17q23.1-q23.2 deletion syndrome
| Orphanet | ORPHA:261279 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO