Severe myopia, generalized joint laxity, short stature syndrome

disorder

SNOMED 1217372003CUI C4540020

Overview

Severe myopia, generalized joint laxity, short stature 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

Loose-jointedness

Always present (100%)HP:0001382

Severe myopia

Always present (100%)HP:0011003

Chorioretinal coloboma

Frequent (30-79%)HP:0000567

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Hearing impairment

Frequent (30-79%)HP:0000365

Iris coloboma

Frequent (30-79%)HP:0000612

Multiple joint dislocation

Frequent (30-79%)HP:0012095

Pectus carinatum

Frequent (30-79%)HP:0000768

Retinal detachment

Frequent (30-79%)HP:0000541

Cervical kyphosis

Occasional (5-29%)HP:0002947

Glaucoma

Occasional (5-29%)HP:0000501

Inguinal hernia

Occasional (5-29%)HP:0000023

Kyphoscoliosis

Occasional (5-29%)HP:0002751

Umbilical hernia

Occasional (5-29%)HP:0001537

Mental-retardation

Excluded (<1%)HP:0001249

Related Conditions

Small stature(parent)

Multiple dislocations with dysplasia(parent)

Musculoskeletal and connective tissue disorder(parent)

Severe myopia(parent)

Congenital connective tissue disorder(parent)

Connective tissue hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of the visual system(parent)

Injury of connective tissue(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1217372003
UMLS CUI: C4540020
Fully Specified Name: Severe myopia, generalized joint laxity, short stature syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.