Goldberg-Shprintzen syndrome
MeSH: C537279ORPHA: 66629
Overview
syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1
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 Goldberg-Shprintzen syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateMicrocephalyIntellectual disabilitySpecific learning disabilityAganglionic megacolonShort staturePtosisIris colobomaHypotoniaHypospadiasBifid scrotumPointed chinHypertelorismSloping foreheadMacrotiaWide nasal bridgeSeizurePachygyriaHypoplasia of the corpus callosumVentriculomegalySparse scalp hairFinger syndactylySparse eyebrow
Classification & Codes
MeSH Code
C537279Orphanet Code
ORPHA:66629Goldberg-Shprintzen syndrome
| MeSH | C537279 |
| Orphanet | ORPHA:66629 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO