Prader-Willi syndrome due to translocation
ORPHA: 177907
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 Prader-Willi syndrome due to translocation, sourced from HPO and Orphanet clinical annotations.
HypertelorismMicrognathiaPreauricular skin tagNarrow nasal bridgeProminent noseBroad nasal tipAnteverted naresShort neckStrabismusDeeply set eyeObesityWeak cryPoor suckFeeding difficulties in infancyHypogonadotropic hypogonadismThin upper lip vermilionNarrow foreheadDecreased response to growth hormone stimulation testMild intellectual disabilityNeonatal hypotoniaShort footAbnormal facial shapeRespiratory distressRecurrent respiratory infectionsDownturned corners of mouthExternal genital hypoplasiaShort statureSevere muscular hypotoniaAlmond-shaped palpebral fissureAnterior pituitary hypoplasiaAbnormal temper tantrumsSmall handAbnormality of the kidneyWide mouthCleft palateBifid uvulaHigh palateEverted lower lip vermilionMicrocephalyRetrognathiaProptosisHypermetropiaMyopiaUpslanted palpebral fissureHypotelorismCarious teethAtypical behaviorCompulsive behaviorsMotor stereotypyAnxietyDelayed speech and language developmentHyperpigmentation of the skinHypopigmentation of the skinBrachydactylySeizureGlobal developmental delayHyporeflexiaAbsent speechHyperreflexiaIntrauterine growth retardationOligohydramniosHypernasal speechAbnormal heart morphologyPatent ductus arteriosusPatent foramen ovalePes planusBilateral talipes equinovarusOverlapping toeCerebral cortical atrophyScoliosisShort noseClinodactyly of the 5th fingerFlat occiputHypopigmentation of hairMicrodontia of primary teethLateral ventricle dilatationAttention deficit hyperactivity disorderIris hypopigmentationAlveolar ridge overgrowthUnderdeveloped nasolabial foldSevere intellectual disabilityNasogastric tube feeding in infancySkin-pickingHead-bangingAbnormal social behaviorWidened subarachnoid spaceReduced social responsivenessStellate irisClinodactylyClinodactyly of the 4th fingerHappy demeanorCerebral visual impairmentTriangular-shaped open mouth
Classification & Codes
Orphanet Code
ORPHA:177907Prader-Willi syndrome due to translocation
| Orphanet | ORPHA:177907 |
| Treatments | 0 drug(s) |
| Symptoms on record | 93 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO