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short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA: 357175

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 short ulna-dysmorphism-hypotonia-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Thin upper lip vermilionEverted lower lip vermilionMalar flatteningHypertelorismLong philtrumMicrognathiaLow-set earsWide noseSynophrysAbnormality of the skeletal systemHirsutismHypotoniaMild intellectual disabilityGlobal developmental delayAbnormal facial shapeHypoplasia of the ulnaDecreased body weightFlat occiputMicrotiaThick nasal alaeClinodactylyBroad foreheadDownslanted palpebral fissuresModerate intellectual disabilitySevere intellectual disability

Classification & Codes

Orphanet Code

ORPHA:357175
short ulna-dysmorphism-hypotonia-intellectual disability syndrome
OrphanetORPHA:357175
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO