chromosome 5q12 deletion syndrome
ORPHA: 439822
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 5q12 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Malar flatteningBrachydactylyBroad metacarpalsIntellectual disabilityBroad footBroad metatarsalShort toeShort noseDepressed nasal bridgeBroad phalanxShort phalanx of fingerShort metacarpalBroad halluxShort metatarsalFlat faceCoarse facial featuresMandibular prognathiaShort philtrumHypoplasia of the maxillaIntrauterine growth retardationAccelerated skeletal maturationPostnatal growth retardationCone-shaped epiphysisCryptorchidismHypospadiasThin upper lip vermilionBrachycephalyBroad faceHypertelorismLong philtrumMicrognathiaPosteriorly rotated earsHearing impairmentProminent noseVisual impairmentPtosisHypermetropiaEsotropiaHypotelorismLong palpebral fissureAbnormal dental enamel morphologyAutistic behaviorSeizureNeonatal hypotoniaJoint hypermobilityObesityPes planusLarge foreheadFrontal bossingIncreased intracranial pressureHypotensionThickened calvariaElevated circulating parathyroid hormone levelIrregular vertebral endplatesProminent nasal tipShort middle phalanx of fingerCaudal interpedicular narrowingUpper limb undergrowthBilateral coxa valgaNarrow palpebral fissure
Classification & Codes
Orphanet Code
ORPHA:439822chromosome 5q12 deletion syndrome
| Orphanet | ORPHA:439822 |
| Treatments | 0 drug(s) |
| Symptoms on record | 60 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO