Spondyloepimetaphyseal dysplasia with joint laxity Beighton type

disorder

SNOMED 1286833006CUI C4017377

Overview

Spondyloepimetaphyseal dysplasia with joint laxity Beighton type 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.

Atria septal defect

Always present (100%)HP:0001631

Flattened vertebral bodies

Always present (100%)HP:0000926

Hyperplasia of the femoral trochanters

Always present (100%)HP:0002822

Kyphoscoliosis

Always present (100%)HP:0002751

Large iliac wings

Always present (100%)HP:0008818

Near sighted

Always present (100%)HP:0000545

Short stature, severe

Always present (100%)HP:0003510

Shortened long bones of hand

Always present (100%)HP:0010049

Small iliac bodies

Always present (100%)HP:0008824

Splayed metaphyses

Always present (100%)HP:0003015

Advanced ossification of carpal bones

Very frequent (80-99%)HP:0004233

Flat facial shape

Very frequent (80-99%)HP:0012368

Protruding forehead

Very frequent (80-99%)HP:0011220

Anterior bulging of the globe of eye

Frequent (30-79%)HP:0000520

Beaking of vertebral bodies

Frequent (30-79%)HP:0004568

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Fallen arches

Frequent (30-79%)HP:0001763

Finger joint hypermobility

Frequent (30-79%)HP:0006094

Grey sclerae

Frequent (30-79%)HP:0000592

Large joint hypermobilty

Frequent (30-79%)HP:0430047

Limited elbow movement

Frequent (30-79%)HP:0002996

Long upper lip

Frequent (30-79%)HP:0011341

Skin hyperelasticity

Frequent (30-79%)HP:0000974

Soft, doughy skin

Frequent (30-79%)HP:0001027

Spatulate thumbs

Frequent (30-79%)HP:0001222

Thinning scalp hair

Frequent (30-79%)HP:0002209

Abnormality of femoral head development

Occasional (5-29%)HP:0010575

Contractures of the hands

Occasional (5-29%)HP:0009473

Related Conditions

Spondyloepimetaphyseal disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Chronic arthropathy(parent)

Movement disorder(parent)

Disorder of vertebral column(parent)

Congenital anomaly of spine(parent)

Recessive hereditary disorder (autosomal)(parent)

Abnormality of axial skeleton morphology(parent)

Quick Facts

SNOMED CT: 1286833006
UMLS CUI: C4017377
Fully Specified Name: Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (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.