Terminal osseous dysplasia and pigmentary defect syndrome

disorder

SNOMED 723578001CUI C4509953

Overview

Terminal osseous dysplasia and pigmentary defect syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hyperpigmented papule

Very frequent (80-99%)HP:0025473

Infantile digital fibroma

Very frequent (80-99%)HP:0025197

Brachydactyly

Frequent (30-79%)HP:0001156

Curvature of digit

Frequent (30-79%)HP:0030084

Extra oral frenum

Frequent (30-79%)HP:0000191

Flexion contractures

Frequent (30-79%)HP:0001371

Hair loss

Frequent (30-79%)HP:0001596

Camptodactyly

Occasional (5-29%)HP:0012385

Decreased body height

Occasional (5-29%)HP:0004322

Hypoplastic teeth

Occasional (5-29%)HP:0000685

Increased distance between eyes

Occasional (5-29%)HP:0000316

Iris coloboma

Occasional (5-29%)HP:0000612

Nasal tip, depressed

Occasional (5-29%)HP:0000437

Osteolysis involving bones of the lower limbs

Occasional (5-29%)HP:0009139

Osteolysis involving bones of the upper limbs

Occasional (5-29%)HP:0045039

Palpebronasal fold

Occasional (5-29%)HP:0000286

PFO

Occasional (5-29%)HP:0001655

Preauricular earpits

Occasional (5-29%)HP:0004467

Scoliosis

Occasional (5-29%)HP:0002650

Shorter than typical length between neck and abdomen

Occasional (5-29%)HP:0010306

Syndactyly

Occasional (5-29%)HP:0001159

Mitral regurgitation, mild

Very rare (1-4%)HP:0001653

Restrictive cardiomyopathy

Very rare (1-4%)HP:0001723

Related Conditions

Inherited cutaneous hyperpigmentation(parent)

Otopalatodigital syndrome spectrum disorder(parent)

Quick Facts

SNOMED CT: 723578001
UMLS CUI: C4509953
Fully Specified Name: Terminal osseous dysplasia and pigmentary defect syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.