aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
ORPHA: 324540
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 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Hypoplastic labia majoraNarrow mouthFull cheeksPosteriorly rotated earsSensorineural hearing impairmentStrabismusDownslanted palpebral fissuresLong eyelashesRetinal dystrophyThick eyebrowLong palpebral fissureOptic atrophyWidely spaced teethMicrodontiaTapered fingerBilateral ptosisIntrauterine growth retardationLaryngeal stenosisLoss of voiceShort nailHallux valgusInverted nipplesUnilateral vocal cord paralysisJoint contracture of the 5th fingerFlexion contracture of the 2nd fingerThumb contractureDuplication of phalanx of halluxDuplication of distal phalanx of toeSevere intellectual disabilityBroad thumbFeeding difficultiesThick vermilion borderSmall scrotumBifid scrotumHypoplastic labia minora
Classification & Codes
Orphanet Code
ORPHA:324540aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
| Orphanet | ORPHA:324540 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO