7q31 microdeletion syndrome
ORPHA: 251061
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 7q31 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentSpeech apraxiaRecurrent ear infectionsWide mouthMacrocephalyEpicanthusHypertelorismHypoplasia of the maxillaLong philtrumLow-set earsProminent noseTorticollisTelecanthusAutistic behaviorShort attention spanHyperactivityProminent fingertip padsIntellectual disabilityDysarthriaPlagiocephalyIntrauterine growth retardationHypernasal speechAtrial septal defectDysphagiaGastroesophageal refluxAsthmaAbnormal speech patternRecurrent respiratory infectionsScoliosisDelayed skeletal maturationSkeletal muscle atrophyHypoplasia of the cochleaPostnatal growth retardationAxial hypotoniaEnuresis nocturnaSevere global developmental delayHypoplasia of the semicircular canalEnlarged cochlear aqueductNasogastric tube feeding in infancyChildhood onset sensorineural hearing impairmentPatent ductus arteriosus after birth at termGalactosuriaAbnormality of von Willebrand factorShort palpebral fissureNeurodevelopmental delayWide nasal ridgeEsodeviationAbnormal temper tantrumsClinodactyly of the 2nd fingerHypoplasia of the olfactory bulb
Classification & Codes
Orphanet Code
ORPHA:2510617q31 microdeletion syndrome
| Orphanet | ORPHA:251061 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO