hyperphosphatasia-intellectual disability syndrome
ORPHA: 247262
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 hyperphosphatasia-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
HypertelorismSeizureGlobal developmental delayElevated circulating alkaline phosphatase concentrationShortening of all distal phalanges of the fingersFloppy infantWide nasal bridgeLong palpebral fissureIntellectual disabilityGrowth delayAbnormal facial shapeBilateral tonic-clonic seizureDownturned corners of mouthTented upper lip vermilionHydronephrosisBifid uvulaHigh palateBrachycephalyCoarse facial featuresEpicanthusBroad philtrumMandibular prognathiaRound faceShort philtrumMicrognathiaCupped earThickened helicesBulbous noseProminent nasal bridgeShort neckHypermetropiaEsotropiaUpslanted palpebral fissureShallow anterior chamberOculomotor apraxiaAutistic behaviorPectus excavatumTelangiectasiaSingle umbilical arteryAtaxiaGait disturbanceReduced tendon reflexesMyoclonusPlagiocephalyHip dysplasiaAnteriorly placed anusOligohydramniosSmall nailAganglionic megacolonModerate intellectual disabilityEEG with polyspike wave complexesHighly arched eyebrowSupernumerary nippleScoliosisAbnormal parietal bone morphologyCerebral hypomyelinationEEG with spike-wave complexesSevere intellectual disabilityGastrostomy tube feeding in infancyClinodactylyIncreased head circumferenceDecreased head circumference
Classification & Codes
Orphanet Code
ORPHA:247262hyperphosphatasia-intellectual disability syndrome
| Orphanet | ORPHA:247262 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO