Seckel syndrome
ORPHA: 808
Overview
autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability
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 Seckel syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyNarrow faceMicrognathiaConvex nasal ridgeIntellectual disabilityCraniosynostosisIntrauterine growth retardationSandal gapDelayed skeletal maturationClinodactyly of the 5th fingerShort statureCachexiaPrematurely aged appearanceMild global developmental delayCognitive impairmentAbnormal earlobe morphologyAbsent earlobeDownslanted palpebral fissuresGlaucomaAbnormal dental enamel morphologyHip dysplasiaSparse scalp hairTooth agenesisCone-shaped epiphysisScoliosisJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:808Seckel syndrome
| Orphanet | ORPHA:808 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO