Roifman syndrome
MeSH: C535866ORPHA: 353298
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 Roifman syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismThin upper lip vermilionMicrocephalyHypertelorismLong philtrumRecurrent otitis mediaUnderdeveloped nasal alaeNarrow nasal bridgeRetinal dystrophyLong palpebral fissureEczematoid dermatitisBrachydactylyGeneralized hypotoniaHepatosplenomegalyIntrauterine growth retardationHyperconvex nailShort toeIncreased total eosinophil countHypoplasia of the corpus callosumModerate intellectual disabilitySpondyloepiphyseal dysplasiaEpiphyseal dysplasiaDownturned corners of mouthLymphadenopathyHip contractureClinodactyly of the 5th fingerDecreased circulating immunoglobulin concentrationShort statureBiconvex vertebral bodiesIrregular capital femoral epiphysisRecurrent pneumoniaBilateral single transverse palmar creasesBroad femoral headDelayed proximal femoral epiphyseal ossificationPostnatal growth retardationProminent eyelashesHippocampal atrophyNoncompaction cardiomyopathy
Classification & Codes
MeSH Code
C535866Orphanet Code
ORPHA:353298Roifman syndrome
| MeSH | C535866 |
| Orphanet | ORPHA:353298 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO