short stature-brachydactyly-obesity-global developmental delay syndrome
ORPHA: 464288
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 short stature-brachydactyly-obesity-global developmental delay syndrome, sourced from HPO and Orphanet clinical annotations.
Thin vermilion borderLong philtrumDeeply set eyeAbnormality of the skeletal systemBrachydactylyIntellectual disabilityGlobal developmental delayAbnormal facial shapeShort fourth metatarsalFloppy infantCryptorchidismGingival overgrowthHypertelorismDepressed nasal ridgeAnteverted naresShort neckStrabismusEczematoid dermatitisSeizureMild intellectual disabilitySpecific learning disabilityObesitySevere intellectual disabilityProminent foreheadFlat faceAbnormal brain morphologyVesicoureteral refluxRenal hypoplasiaMicrocephalyRetrognathiaPreauricular skin tagSensorineural hearing impairmentColobomaBlue scleraeDacryocystitisAbnormality of the endocrine systemPseudohypoparathyroidismLaryngomalaciaHypoplasia of the corpus callosumModerate intellectual disabilityPatellar hypoplasiaThick corpus callosumSleep apneaFeeding difficultiesAbnormal conus terminalis morphology
Classification & Codes
Orphanet Code
ORPHA:464288short stature-brachydactyly-obesity-global developmental delay syndrome
| Orphanet | ORPHA:464288 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO