Atelosteogenesis type 2

disorder

SNOMED 254055004CUI C1850554

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Increased intervertebral space

Always present (100%)HP:0030320

Short limbs

Very frequent (80-99%)HP:0009826

Bell-shaped chest

Frequent (30-79%)HP:0001591

Bilateral clubfeet

Frequent (30-79%)HP:0001776

Brachydactyly

Frequent (30-79%)HP:0001156

Camptodactyly

Frequent (30-79%)HP:0012385

Cleft of palate

Frequent (30-79%)HP:0000175

Deformity of face

Frequent (30-79%)HP:0001999

Dorsolumbar kyphosis

Frequent (30-79%)HP:0003423

Dumbbell-shaped thighbone

Frequent (30-79%)HP:0006375

Equinovarus deformity

Frequent (30-79%)HP:0008110

Genu valga

Frequent (30-79%)HP:0002857

Hitchhiker thumb

Frequent (30-79%)HP:0001234

Hypoplasia involving bones of the upper limbs

Frequent (30-79%)HP:0009824

Increased femoral neck anteversion

Frequent (30-79%)HP:0012427

Laryngeal stenosis

Frequent (30-79%)HP:0001602

Low chest circumference

Frequent (30-79%)HP:0000774

Phalangeal hypoplasia

Frequent (30-79%)HP:0009803

Poorly developed lungs

Frequent (30-79%)HP:0002089

Rhizomelic arm shortening

Frequent (30-79%)HP:0004991

Rhizomelic limb shortening

Frequent (30-79%)HP:0008905

Short femur

Frequent (30-79%)HP:0003097

Short lower limbs

Frequent (30-79%)HP:0006385

Short neck

Frequent (30-79%)HP:0000470

Short ribs

Frequent (30-79%)HP:0000773

Shortened long bones of hand

Frequent (30-79%)HP:0010049

Sickled feet

Frequent (30-79%)HP:0001840

Space between great toe and second toe

Frequent (30-79%)HP:0001852

Thoracic hypoplasia

Frequent (30-79%)HP:0005257

Tibial torsion

Frequent (30-79%)HP:0100694

Related Conditions

Atelosteogenesis(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of skeletal bone(parent)

BI - Bone injury(parent)

Lethal congenital disproportionate short limbed short stature(parent)

Quick Facts

SNOMED CT: 254055004
UMLS CUI: C1850554
Fully Specified Name: Atelosteogenesis type 2 (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.