progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
ORPHA: 457395
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 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Malar flatteningEpicanthusHypertelorismShort neckProptosisAbnormality of the earAutistic behaviorPlatyspondylyOsteopeniaBrachydactylyIntellectual disabilityMotor delayGait disturbanceCraniosynostosisCarpal bone hypoplasiaOverlapping toeFrontal bossingSpondyloepimetaphyseal dysplasiaDelayed skeletal maturationKyphoscoliosisAbnormality of the kneeShort noseAbnormal hip bone morphologyShort statureShort fourth metatarsalDepressed nasal bridgeCone-shaped epiphysisTented upper lip vermilionThick vermilion borderShort femoral neckAbnormality of the dentitionMicrocephalyLow-set earsAbnormal sternum morphologyMild intellectual disabilityGeneralized hypotoniaPes planusRocker bottom footCoxa varaGenu valgumThoracolumbar scoliosisCubitus valgusShort long boneSlender long boneNarrow pelvis boneHyperlordosisDisproportionate short-trunk short statureClinodactyly of the 5th fingerShort palmBeaking of vertebral bodiesDistal femoral bowingHyperextensible hand jointsProximal femoral epiphysiolysisSevere expressive language delayShort metacarpalSmall epiphysesProminent calcaneusTibial metaphyseal irregularityFibular metaphyseal irregularityIncreased size of nasopharyngeal adenoidsStrabismusLimited elbow extensionPatent ductus arteriosusMitral regurgitationPatent foramen ovalePes cavusToe clinodactylyHypoplasia of the corpus callosumModerate intellectual disabilitySmall foramen magnumThoracic platyspondylyFlattened femoral headOssifying fibroma of the jaw
Classification & Codes
Orphanet Code
ORPHA:457395progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
| Orphanet | ORPHA:457395 |
| Treatments | 0 drug(s) |
| Symptoms on record | 73 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO