Brachydactyly type A1

disorder

SNOMED 715720006CUI C1862151

Overview

Brachydactyly type A1 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

Very frequent (80-99%)HP:0004322

Short hallux

Very frequent (80-99%)HP:0010109

Short middle phalanx of finger

Very frequent (80-99%)HP:0005819

Small feet

Very frequent (80-99%)HP:0001773

Thumb hypoplasia

Very frequent (80-99%)HP:0009778

Cone-shaped epiphyses

Frequent (30-79%)HP:0010579

Bilateral fifth digit clinodactyly

Occasional (5-29%)HP:0004209

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Distal symphalangism of hands

Occasional (5-29%)HP:0001204

Fetal foot inversion

Occasional (5-29%)HP:0001762

Short ulna

Occasional (5-29%)HP:0003022

Wide metacarpals

Occasional (5-29%)HP:0001230

Absent/small middle bones of toe

HP:0010194

Aplasia of the distal interphalangeal creases

HP:0001032

Brachydactyly

HP:0001156

Broad end part of long bone of hand

HP:0006146

Broad palm

HP:0001169

Distal phalangeal hypoplasia

HP:0009882

Flattened head of long bone of foot

HP:0005194

Hypoplastic hands

HP:0004279

Hypoplastic/aplastic middle phalanx

HP:0009843

Proportionate shortening of all digits

HP:0006165

Radial deviation of the 3rd finger

HP:0009462

Radial deviation of the ring finger

HP:0009279

Radially deviated index finger

HP:0009467

Short proximal phalanx of hallux

HP:0010107

Short proximal thumb phalanx

HP:0009638

Shortened long bones of hand

HP:0010049

Slender metacarpals

HP:0006236

Thin proximal phalanges with broad epiphyses

HP:0006213

Related Conditions

Autosomal dominant hereditary disorder(parent)

Brachyphalangia(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715720006
UMLS CUI: C1862151
Fully Specified Name: Brachydactyly type A1 (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.