Lamb-Shaffer syndrome
ORPHA: 313892
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 Lamb-Shaffer syndrome, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityMotor delayDelayed speech and language developmentHyperplasia of the maxillaNarrow palateStrabismusMyopiaExotropiaOptic atrophyDental crowdingAnxietyPectus carinatumHypotoniaFrontal bossingExaggerated median tongue furrowLumbar hyperlordosisVertebral fusion2-3 toe syndactylyThoracic kyphoscoliosisAbnormal brain morphologyAbnormality of the genital systemAggressive behaviorMotor stereotypySeizureMitral regurgitationGastroesophageal refluxScoliosisButterfly vertebraeAttention deficit hyperactivity disorderFeeding difficultiesSelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:313892Lamb-Shaffer syndrome
| Orphanet | ORPHA:313892 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO