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Dyggve-Melchior-Clausen syndrome

disorder
SNOMED 82699004CUI C0265286

Overview

Dyggve-Melchior-Clausen 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.

Brachydactyly
Always present (100%)HP:0001156
Flaring of lower rib cage
Always present (100%)HP:0006589
Increased lumbar lordosis
Always present (100%)HP:0002938
Short long bone of foot
Always present (100%)HP:0010743
Shortened long bones of hand
Always present (100%)HP:0010049
Small wrist bones
Always present (100%)HP:0001498
Widened metaphyses
Always present (100%)HP:0003016
Broad chest
Very frequent (80-99%)HP:0000914
Dull intelligence
Very frequent (80-99%)HP:0001249
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Rhizomelic arm shortening
Very frequent (80-99%)HP:0004991
Short-trunked dwarfism
Very frequent (80-99%)HP:0003521
Spondyloepimetaphyseal dysplasia
Very frequent (80-99%)HP:0002651
Abnormal development of the ends of long bones in arms and legs
Frequent (30-79%)HP:0002656
Abnormal pelvis bone morphology
Frequent (30-79%)HP:0040163
Abnormality of the backbone
Frequent (30-79%)HP:0000925
Abnormality of the femoral head
Frequent (30-79%)HP:0003368
Abnormality of the hips
Frequent (30-79%)HP:0003272
Abnormality of the vertebral endplates
Frequent (30-79%)HP:0005106
Acetabular angle flat
Frequent (30-79%)HP:0003180
Beaking of vertebral bodies
Frequent (30-79%)HP:0004568
Belly bloating
Frequent (30-79%)HP:0003270
Broad femoral neck
Frequent (30-79%)HP:0006429
Broad ribs
Frequent (30-79%)HP:0000885
Coarse face
Frequent (30-79%)HP:0000280
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased size of cranium
Frequent (30-79%)HP:0000252
Fine hair
Frequent (30-79%)HP:0002213
Flat philtrum
Frequent (30-79%)HP:0000319
Flattened vertebral bodies
Frequent (30-79%)HP:0000926

Quick Facts

SNOMED CT
82699004
UMLS CUI
C0265286
Fully Specified Name
Dyggve-Melchior-Clausen syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
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.