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terminal osseous dysplasia with pigmentary defects

MeSH: C564554ORPHA: 88630

Contents

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

Overview

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis

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 terminal osseous dysplasia with pigmentary defects, sourced from HPO and Orphanet clinical annotations.

Inclusion body fibromatosisHyperpigmented papuleAccessory oral frenulumBrachydactylyFlexion contractureAlopeciaClinodactylyEpicanthusHypertelorismDepressed nasal tipIris colobomaHypoplasia of teethSyndactylyPatent foramen ovaleScoliosisShort staturePreauricular pitOsteolysis involving bones of the lower limbsShort thoraxCamptodactylyOsteolysis involving bones of the upper limbsMitral regurgitationRestrictive cardiomyopathy

Classification & Codes

MeSH Code

C564554

Orphanet Code

ORPHA:88630
terminal osseous dysplasia with pigmentary defects
MeSHC564554
OrphanetORPHA:88630
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO