disorder of sex development-intellectual disability syndrome

ORPHA: 2983

Overview

Verloes-Gillerot-Fryns syndrome is a rare association of malformations

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 disorder of sex development-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Small scrotumHypogonadismThin vermilion borderAbnormality of the faceShort philtrumShort neckDeeply set eyeSynophrysIntellectual disabilityLow posterior hairlineDownturned corners of mouthKyphosisGenu valgumShort noseSpina bifida occultaReduced bone mineral densityWide intermamillary distanceMicrotiaSevere sensorineural hearing impairmentHypoplasia of penisShort thoraxAbnormal hair patternPosteriorly rotated ears

Classification & Codes

Orphanet Code

ORPHA:2983
disorder of sex development-intellectual disability syndrome
OrphanetORPHA:2983
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
disorder of sex development-intellectual disability syndrome | OrphanDrug