hypoparathyroidism-retardation-dysmorphism syndrome
MeSH: C537157ORPHA: 2323
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 hypoparathyroidism-retardation-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsAbnormal pinna morphologyThin vermilion borderMicrocephalyLong philtrumMicrognathiaHigh foreheadConvex nasal ridgeDeeply set eyeHypoparathyroidismIntellectual disabilitySeizureShort footDelayed skeletal maturationHypocalcemiaHyperphosphatemiaShort statureDepressed nasal bridgeCongenital hypoparathyroidismSevere intrauterine growth retardationPostnatal growth retardationSmall handAbnormality of the dentitionAbnormal dental enamel morphologyRecurrent respiratory infectionsCryptorchidismAstigmatismVentriculomegalyMyopathySpinal canal stenosisIntestinal obstructionCellular immunodeficiencyPatchy osteosclerosisCorneal opacityAplasia/Hypoplasia affecting the eyeHypoplasia of penis
Classification & Codes
MeSH Code
C537157Orphanet Code
ORPHA:2323hypoparathyroidism-retardation-dysmorphism syndrome
| MeSH | C537157 |
| Orphanet | ORPHA:2323 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO