ossification anomalies-psychomotor developmental delay syndrome
ORPHA: 73230
Overview
Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification
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 ossification anomalies-psychomotor developmental delay syndrome, sourced from HPO and Orphanet clinical annotations.
Shallow orbitsAbnormal thorax morphologyThin ribsAbsent speechDysphagiaGastroesophageal refluxRecurrent aspiration pneumoniaVentriculomegalyDelayed gross motor developmentSlender long boneDecreased muscle massPenile hypospadiasAbnormal form of the vertebral bodiesPostnatal growth retardationShort 5th fingerTriangular shaped distal phalanges of the handShort distal phalanx of fingerHepatic hemangiomaClubbing of fingersNarrow chestAbnormal diaphysis morphologyGlobal developmental delayGeneralized hypotoniaHepatomegalyElevated circulating hepatic transaminase concentrationMetaphyseal wideningGeneralized bone demineralizationAbnormal bone ossificationHyperostosisLarge fontanellesTriangular faceAnteverted naresHypertelorismMicrognathiaHigh foreheadProptosis
Classification & Codes
Orphanet Code
ORPHA:73230ossification anomalies-psychomotor developmental delay syndrome
| Orphanet | ORPHA:73230 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO