Seckel syndrome 7
ORPHA: 319675
Overview
Seckel syndrome that has material basis in compound heterozygous mutation in the NIN gene on chromosome 14q22
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 7, sourced from HPO and Orphanet clinical annotations.
MicrocephalyProminent noseHypotelorismPrimary amenorrheaAbnormal carpal morphologySeizureGlobal developmental delayHip dysplasiaObesitySubglottic stenosisDelayed skeletal maturationMadelung deformityClinodactyly of the 5th fingerShort middle phalanx of the 5th fingerShort statureLumbar scoliosisMicrotiaSevere intrauterine growth retardationSevere postnatal growth retardationLimb undergrowthSevere intellectual disabilityBilateral breast hypoplasia
Classification & Codes
Orphanet Code
ORPHA:319675Seckel syndrome 7
| Orphanet | ORPHA:319675 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO