Autosomal dominant omodysplasia

disorder

SNOMED 725165009CUI C2750355

Overview

Autosomal dominant omodysplasia 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.

Rhizomelic arm shortening

Always present (100%)HP:0004991

Cryptorchidism

Very frequent (80-99%)HP:0000028

Humeral hypoplasia

Very frequent (80-99%)HP:0005792

Rhizomelic limb shortening

Very frequent (80-99%)HP:0008905

Shortened 1st long bone of hand

Very frequent (80-99%)HP:0010034

Ulnohumeral dislocation

Very frequent (80-99%)HP:0003042

Anterior wedging of T11

Frequent (30-79%)HP:0004573

Bilateral cleft lip

Frequent (30-79%)HP:0100336

Broad femoral neck

Frequent (30-79%)HP:0006429

Cleft of palate

Frequent (30-79%)HP:0000175

Clitoral hypoplasia

Frequent (30-79%)HP:0000060

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Depressed nasal root/bridge

Frequent (30-79%)HP:0005280

Didelphic uterus

Frequent (30-79%)HP:0003762

Dyspareunia

Frequent (30-79%)HP:0030016

Feeding difficulties

Frequent (30-79%)HP:0011968

Frontal protuberance

Frequent (30-79%)HP:0002007

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Glabellar hemangioma

Frequent (30-79%)HP:0001076

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Hypoplastic labia

Frequent (30-79%)HP:0000066

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Inverted V-shaped upper lip

Frequent (30-79%)HP:0010804

Overfolded helix

Frequent (30-79%)HP:0000396

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Radial head dislocation

Frequent (30-79%)HP:0003083

Recurrent middle ear infection

Frequent (30-79%)HP:0000403

Related Conditions

Autosomal dominant hereditary disorder(parent)

Omodysplasia(parent)

Congenital anomaly of upper limb(parent)

Abnormal upper limb bone morphology(parent)

Quick Facts

SNOMED CT: 725165009
UMLS CUI: C2750355
Fully Specified Name: Autosomal dominant omodysplasia (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.