autosomal dominant Robinow syndrome 1
ORPHA: 3107
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 autosomal dominant Robinow syndrome 1, sourced from HPO and Orphanet clinical annotations.
HypertelorismWide nasal bridgeWide noseAnteverted naresBrachydactylyMicromeliaShort noseShort palmHypoplasia of penisMidface retrusionCryptorchidismHypoplastic labia majoraClitoral hypoplasiaHypoplastic labia minoraAbnormality of the gingivaGingival overgrowthMacrocephalyRetrognathiaEpicanthusLong philtrumMicrognathiaProptosisLong eyelashesUpslanted palpebral fissureLong palpebral fissurePectus excavatumUmbilical herniaFrontal bossingHigh, narrow palateDownturned corners of mouthHemivertebraeAbnormal form of the vertebral bodiesSevere short statureClinodactyly of the 5th fingerShort statureDepressed nasal bridgeCurly eyelashesBifid tongueOpen biteProminent foreheadEuryblepharonInguinal herniaAbnormal penis morphologyEpispadiasHypospadiasShort philtrumPosteriorly rotated earsHearing impairmentLow-set earsShort neckStrabismusDownslanted palpebral fissuresPtosisBlue scleraeHypodontiaAnodontiaOligodontiaPectus carinatumSacral dimpleIntellectual disabilityGlobal developmental delaySpecific learning disabilityHip dysplasiaAlopeciaScoliosisCoxa valgaCoxa varaHip dislocationElbow dislocationCapillary hemangiomaAvascular necrosis of the capital femoral epiphysisFinger syndactylyRidged fingernailNaevus flammeus of the eyelidSupernumerary toothOnychogryphosis of fingernailCamptodactyly of fingerFemoral herniaFingernail dysplasiaMedian cleft palate
Classification & Codes
Orphanet Code
ORPHA:3107autosomal dominant Robinow syndrome 1
| Orphanet | ORPHA:3107 |
| Treatments | 0 drug(s) |
| Symptoms on record | 80 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO