Heart-hand syndrome type 2

disorder

SNOMED 721010003CUI C2931323

Overview

Heart-hand syndrome type 2 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 clavicles

Very frequent (80-99%)HP:0000889

Abnormal humerus morphology

Very frequent (80-99%)HP:0031095

Abnormal morphology of ulna

Very frequent (80-99%)HP:0040071

Abnormality of the elbow

Very frequent (80-99%)HP:0009811

Abnormality of the shoulder

Very frequent (80-99%)HP:0003043

Absent/underdeveloped radius

Very frequent (80-99%)HP:0006501

Aplastic/hypoplastic thumbs

Very frequent (80-99%)HP:0009601

Brachydactyly

Very frequent (80-99%)HP:0001156

Cardiac arrhythmias

Very frequent (80-99%)HP:0011675

Micromelia

Very frequent (80-99%)HP:0002983

Stiff joint

Very frequent (80-99%)HP:0001387

Abnormal metacarpal morphology

Frequent (30-79%)HP:0005916

Hypoplastic fourth metacarpal

Frequent (30-79%)HP:0010044

Polydactyly of the hand

Frequent (30-79%)HP:0001161

Short 5th metacarpal

Frequent (30-79%)HP:0010047

Abnormal palate morphology

Occasional (5-29%)HP:0000174

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormality of the wrist

Occasional (5-29%)HP:0003019

Asymmetric limb shortening

Occasional (5-29%)HP:0100556

Asymmetry of the thorax

Occasional (5-29%)HP:0001555

Cryptorchidism

Occasional (5-29%)HP:0000028

Dull intelligence

Occasional (5-29%)HP:0001249

Low posterior hair line

Occasional (5-29%)HP:0002162

Tooth abnormalities

Occasional (5-29%)HP:0000164

Transverse earlobe creases

Occasional (5-29%)HP:0009908

Related Conditions

Congenital heart disease(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Congenital anomaly of upper limb(parent)

Dysostosis(parent)

Arrhythmia(parent)

Congenital dysplasia of limb(parent)

Abnormal upper limb bone morphology(parent)

Quick Facts

SNOMED CT: 721010003
UMLS CUI: C2931323
Fully Specified Name: Heart-hand syndrome type 2 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.