chromosome 10q23 deletion syndrome
MeSH: C567385ORPHA: 79076
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 10q23 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Gastrointestinal hemorrhageDiarrheaCachexiaProtein-losing enteropathyMacrocephalySubcutaneous lipomaHemangioblastomaAbnormal facial shapeLarge foreheadHypertelorismDownslanted palpebral fissuresDepressed nasal bridgeLow-set earsNarrow mouthShort chinMild intellectual disabilityHamartomatous polyposisAbdominal painHematocheziaAnemiaMelenaRefractory anemiaHypoalbuminemiaIntestinal bleedingIntussusceptionRectal prolapseClubbing of fingersAbnormal heart morphologyGeneralized hypotoniaMotor delayAtrial septal defectPatent ductus arteriosusShort statureMidclavicular hypoplasiaHemangiomaIntellectual disabilityAbnormal bleedingAdenomatous colonic polyposisFreckled genitaliaFrontal bossingHigh, narrow palateBroad thumbBroad phalanx of the toes
Classification & Codes
MeSH Code
C567385Orphanet Code
ORPHA:79076chromosome 10q23 deletion syndrome
| MeSH | C567385 |
| Orphanet | ORPHA:79076 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO