distal monosomy 17q
ORPHA: 1597
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 monosomy 17q, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsNarrow mouthMicrocephalyAbnormality of the philtrumHypertelorismUpslanted palpebral fissureOptic atrophyMelanocytic nevusAbnormal thumb morphologyPremature birthAbnormality of the cardiovascular systemPatent ductus arteriosusAbnormal cardiac septum morphologyRespiratory insufficiencyHepatomegalyMicromeliaAbnormal hip bone morphologyAbnormal form of the vertebral bodiesDeviation of fingerShort statureProminent metopic ridgeAbnormal metacarpal morphologyAbnormal dermatoglyphicsBilateral single transverse palmar creasesMicrotiaAplasia/Hypoplasia of the thumbAplasia/Hypoplasia of the uvulaShort thoraxAsymmetric growthUpper limb asymmetrySmall hand
Classification & Codes
Orphanet Code
ORPHA:1597distal monosomy 17q
| Orphanet | ORPHA:1597 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO