Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome

disorder

SNOMED 1251499005CUI C3809210

Overview

Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos 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.

Decreased body height

Always present (100%)HP:0004322

Finger joint hypermobility

Always present (100%)HP:0006094

Flat facial shape

Always present (100%)HP:0012368

Hyperplasia of the femoral trochanters

Always present (100%)HP:0002822

Joint contracture

Always present (100%)HP:0034392

Large joint hypermobilty

Always present (100%)HP:0430047

Limited elbow movement

Always present (100%)HP:0002996

Protruding forehead

Always present (100%)HP:0011220

Small iliac bodies

Always present (100%)HP:0008824

Abnormality of femoral head development

Very frequent (80-99%)HP:0010575

Acetabular dysplasia

Very frequent (80-99%)HP:0008807

Bowed long bones

Very frequent (80-99%)HP:0006487

Decreased projection of midface

Very frequent (80-99%)HP:0011800

Frontal protuberance

Very frequent (80-99%)HP:0002007

Growth delay as children

Very frequent (80-99%)HP:0008897

Increased susceptibility to fractures

Very frequent (80-99%)HP:0002659

Kyphoscoliosis

Very frequent (80-99%)HP:0002751

Large joint dislocations

Very frequent (80-99%)HP:0005008

Loose-jointedness

Very frequent (80-99%)HP:0001382

Low-set ears

Very frequent (80-99%)HP:0000369

Multiple joint contractures

Very frequent (80-99%)HP:0002828

Multiple joint dislocation

Very frequent (80-99%)HP:0012095

Osteopenia

Very frequent (80-99%)HP:0000938

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Slender long bones with narrow diaphyses

Very frequent (80-99%)HP:0004993

Soft, doughy skin

Very frequent (80-99%)HP:0001027

Spondyloepimetaphyseal dysplasia

Very frequent (80-99%)HP:0002651

Varying degree of multiple fractures

Very frequent (80-99%)HP:0002757

Velvety skin texture

Very frequent (80-99%)HP:0000977

Widened metaphyses

Very frequent (80-99%)HP:0003016

Related Conditions

Spondylodysplastic Ehlers-Danlos syndrome(parent)

Small stature(parent)

Kyphoscoliosis deformity of spine(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1251499005
UMLS CUI: C3809210
Fully Specified Name: Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos 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.