autosomal recessive Robinow syndrome

MeSH: C535863ORPHA: 1507

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

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 recessive Robinow syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal pulmonary valve morphologyAbnormal aortic morphologyAbnormal tricuspid valve morphologyToe syndactylySandal gapRecurrent respiratory infectionsExaggerated cupid's bowAbnormal hip bone morphologyEctopic anusSynostosis of carpal bonesFinger syndactylyBilateral single transverse palmar creasesSupernumerary toothCamptodactyly of fingerWide mouthAbnormality of the dentitionHypertelorismWide nasal bridgeAnteverted naresBrachydactylyDownturned corners of mouthMesomeliaShort noseVertebral segmentation defectClinodactyly of the 5th fingerHypoplasia of penisDisproportionate short-limb short statureShort distal phalanx of fingerOpen biteMidface retrusionCryptorchidismGingival overgrowthMacrocephalyEpicanthusLong philtrumMicrognathiaHearing impairmentChronic otitis mediaProptosisLong eyelashesUpslanted palpebral fissureLong palpebral fissurePectus excavatumRib fusionUmbilical herniaFrontal bossingScoliosisKyphosisElbow dislocationDepressed nasal bridgeBroad hallux phalanxAnkyloglossiaBifid tongueTented upper lip vermilionBroad thumbHypoplastic female external genitaliaFingernail dysplasiaMulticystic kidney dysplasiaInguinal herniaHydronephrosisAbnormal palate morphologyOrofacial cleftShort philtrumShort neckStrabismusDownslanted palpebral fissuresPtosisBlue scleraeHypodontiaPectus carinatumSacral dimpleNevus flammeusSplit handIntellectual disabilityAlopeciaVentricular septal defectAtrial septal defectTetralogy of FallotPosteriorly rotated ears

Classification & Codes

MeSH Code

C535863

Orphanet Code

ORPHA:1507

autosomal recessive Robinow syndrome

MeSH	`C535863`
Orphanet	`ORPHA:1507`
Treatments	0 drug(s)
Symptoms on record	79 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO