Arachnodactyly with abnormal ossification and intellectual disability syndrome

disorder

SNOMED 720501007CUI C2931398

Overview

Arachnodactyly with abnormal ossification and intellectual disability 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.

Aplasia/Hypoplasia of the Epiglottis

Frequent (30-79%)HP:0010565

Arachnodactyly

Frequent (30-79%)HP:0001166

Cognitive delay

Frequent (30-79%)HP:0001263

Delayed closure of the fontanelles

Frequent (30-79%)HP:0000270

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dull intelligence

Frequent (30-79%)HP:0001249

Feeding difficulties

Frequent (30-79%)HP:0011968

Frontal protuberance

Frequent (30-79%)HP:0002007

Hypoplastic mandible condyle

Frequent (30-79%)HP:0000347

Hypotonia, early

Frequent (30-79%)HP:0008947

Hypotrophic midface

Frequent (30-79%)HP:0011800

Nasal hypoplasia

Frequent (30-79%)HP:0003196

Shallow eye sockets

Frequent (30-79%)HP:0000586

Thin skull bone

Frequent (30-79%)HP:0010539

Apnea

Occasional (5-29%)HP:0002104

Related Conditions

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

Arachnodactyly(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 720501007
UMLS CUI: C2931398
Fully Specified Name: Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.