Robinow syndrome
MeSH: C562492ORPHA: 97360
Overview
syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities
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 Robinow syndrome, sourced from HPO and Orphanet clinical annotations.
MesomeliaShort statureHypertelorismSmall for gestational ageAcromesomeliaExternal genital hypoplasiaMesomelic arm shorteningCryptorchidismSmall scrotumMicropenisHypoplastic labia majoraClitoral hypoplasiaHydronephrosisBroad alveolar ridgesOrofacial cleftTriangular mouthGingival overgrowthMacrocephalyLong philtrumMicrognathiaPosteriorly rotated earsLow-set earsFlared nostrilsBroad nasal tipAnteverted naresProptosisHypodontiaDental crowdingDental malocclusionTooth malpositionRib fusionMissing ribsBrachydactylySyndactylyAbnormal heart morphologyVentricular septal defectAtrial septal defectPulmonic stenosisCoarctation of aortaSmall nailFrontal bossingNail dysplasiaScoliosisKyphoscoliosisHemivertebraeShort noseDepressed nasal bridgeRadioulnar dislocationBifid distal phalanx of the thumbShort distal phalanx of fingerHigh anterior hairlineAnkyloglossiaBifid tonguePulmonary valve atresiaTricuspid atresiaMidface retrusionFused thoracic vertebraeWebbed penisMulticystic kidney dysplasiaMixed hearing impairmentUmbilical herniaMarked delay in eruption of permanent teethPersistence of primary teethNeurodevelopmental delayDecreased serum testosterone concentration
Classification & Codes
MeSH Code
C562492Orphanet Code
ORPHA:97360Robinow syndrome
| MeSH | C562492 |
| Orphanet | ORPHA:97360 |
| Treatments | 0 drug(s) |
| Symptoms on record | 65 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO