familial adenomatous polyposis due to 5q22.2 microdeletion
ORPHA: 261584
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 familial adenomatous polyposis due to 5q22.2 microdeletion, sourced from HPO and Orphanet clinical annotations.
Adenomatous colonic polyposisNarrow mouthThick upper lip vermilionHigh palateLong faceMandibular prognathiaHypertelorismLong philtrumHigh foreheadBroad nasal tipDownslanted palpebral fissuresMild intellectual disabilityIron deficiency anemiaEarly baldingIntestinal bleedingRelative macrocephalyDuodenal polyposisCongenital hypertrophy of retinal pigment epitheliumDyslexiaAbnormality of canineEpidermoid cystMicrognathiaShort neckSingle transverse palmar creasePosterior polar cataractGeneralized hypotoniaSpastic gaitLow posterior hairlineColon cancerAirway obstructionOptic disc hypoplasiaGastrointestinal desmoid tumorAbnormality of the kidneyHepatoblastomaOsteoma
Classification & Codes
Orphanet Code
ORPHA:261584familial adenomatous polyposis due to 5q22.2 microdeletion
| Orphanet | ORPHA:261584 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO