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rhizomelic syndrome, Urbach type

MeSH: C537611ORPHA: 3098

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 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 rhizomelic syndrome, Urbach type, sourced from HPO and Orphanet clinical annotations.

Abnormality of the tongueMicrocephalyWide anterior fontanelMicrognathiaShort neckAcneBrachydactylyPreaxial hand polydactylyTriphalangeal thumbLimitation of joint mobilityPulmonic stenosisAbnormality of the kneeHip dislocationAbnormal form of the vertebral bodiesShort statureDepressed nasal bridgeAbnormal epiphysis morphologyRhizomeliaAbnormality of the elbowShort distal phalanx of fingerAbnormal hair quantityCognitive impairmentCleft palateHigh palateKyphosisAbnormal humerus morphology

Classification & Codes

MeSH Code

C537611

Orphanet Code

ORPHA:3098
rhizomelic syndrome, Urbach type
MeSHC537611
OrphanetORPHA:3098
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO