Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome

disorder

SNOMED 718765003CUI C2673649

Overview

Spondyloepiphyseal dysplasia and brachydactyly with speech disorder 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.

Abnormal metatarsal morphology

Frequent (30-79%)HP:0001832

Abnormal palate morphology

Frequent (30-79%)HP:0000174

Abnormality of the chin

Frequent (30-79%)HP:0000306

Aplasia/Hypoplasia involving the pelvis

Frequent (30-79%)HP:0009103

Blepharophimosis

Frequent (30-79%)HP:0000581

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Cryptorchidism

Frequent (30-79%)HP:0000028

Cuboid-shaped vertebral bodies

Frequent (30-79%)HP:0004634

Curly eyelashes

Frequent (30-79%)HP:0007665

Curly hair

Frequent (30-79%)HP:0002212

Decreased body height

Frequent (30-79%)HP:0004322

Delayed skeletal development

Frequent (30-79%)HP:0002750

Double row of eyelashes

Frequent (30-79%)HP:0008496

Excessive face hair

Frequent (30-79%)HP:0009937

Flat nasal bridge

Frequent (30-79%)HP:0005280

Increased height of lower lip vermilion

Frequent (30-79%)HP:0000179

Increased length of philtrum

Frequent (30-79%)HP:0000343

Large mouth

Frequent (30-79%)HP:0000154

Limited pronation/supination of forearm

Frequent (30-79%)HP:0006394

Low posterior hair line

Frequent (30-79%)HP:0002162

Microtia

Frequent (30-79%)HP:0008551

Mongoloid slant

Frequent (30-79%)HP:0000582

Nail dysplasia

Frequent (30-79%)HP:0002164

Narrow philtrum

Frequent (30-79%)HP:0011829

Nostrils anteverted

Frequent (30-79%)HP:0000463

Outward turned elbows

Frequent (30-79%)HP:0002967

Pectus excavatum

Frequent (30-79%)HP:0000767

Rhizo-meso-acromelic limb shortening

Frequent (30-79%)HP:0005069

Short neck

Frequent (30-79%)HP:0000470

shortened long tubular bones

Frequent (30-79%)HP:0003026

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Small stature(parent)

Spondyloepiphyseal dysplasia congenita(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718765003
UMLS CUI: C2673649
Fully Specified Name: Spondyloepiphyseal dysplasia and brachydactyly with speech disorder 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.