Hoyeraal-Hreidarsson syndrome
ICD-10: D61.0MeSH: C536068ORPHA: 3322
Overview
a rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
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 Hoyeraal-Hreidarsson syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyIntellectual disabilityAtaxiaGlobal developmental delayHyporeflexiaHypertoniaCerebellar hypoplasiaFailure to thriveIntrauterine growth retardationThrombocytopeniaAbnormal leukocyte morphologyAnemiaAbnormality of coagulationVentriculomegalyCerebral cortical atrophySparse scalp hairPremature graying of hairCerebral calcificationNeoplasmImmunodeficiencyOral leukoplakiaShort statureDermal atrophyBone marrow hypocellularityExcessive wrinkled skinGeneralized hyperpigmentationNail dystrophyGeneralized hypopigmentation of hair
Classification & Codes
ICD-10 Code
D61.0MeSH Code
C536068Orphanet Code
ORPHA:3322Hoyeraal-Hreidarsson syndrome
| ICD-10 | D61.0 |
| MeSH | C536068 |
| Orphanet | ORPHA:3322 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO