Thanatophoric dysplasia, type 2

disorder

SNOMED 389158007CUI C1300257

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.

Short ribs

Always present (100%)HP:0000773

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Absent/small lungs

Very frequent (80-99%)HP:0006703

Brachydactyly

Very frequent (80-99%)HP:0001156

Cloverleaf cranium shape

Very frequent (80-99%)HP:0002676

Concave bridge of nose

Very frequent (80-99%)HP:0005280

Decreased body height

Very frequent (80-99%)HP:0004322

Flat facial shape

Very frequent (80-99%)HP:0012368

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Increased size of skull

Very frequent (80-99%)HP:0000256

Intellectual impairment

Very frequent (80-99%)HP:0100543

Ligamentous laxity

Very frequent (80-99%)HP:0001382

Loose redundant skin

Very frequent (80-99%)HP:0001582

Low chest circumference

Very frequent (80-99%)HP:0000774

Micromelia

Very frequent (80-99%)HP:0002983

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Respiratory insufficiency

Very frequent (80-99%)HP:0002093

Shorter than typical length between neck and abdomen

Very frequent (80-99%)HP:0010306

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Epilepsy

Frequent (30-79%)HP:0001250

Frontal protuberance

Frequent (30-79%)HP:0002007

Hearing impairment

Frequent (30-79%)HP:0000365

Hunched back

Frequent (30-79%)HP:0002808

Increased amniotic fluid index

Frequent (30-79%)HP:0001561

Increased nuchal translucency

Frequent (30-79%)HP:0010880

Prominent globes

Frequent (30-79%)HP:0000520

Abnormality of neuronal migration

Occasional (5-29%)HP:0002269

Acanthosis nigricans

Occasional (5-29%)HP:0000956

Atria septal defect

Occasional (5-29%)HP:0001631

Related Conditions

Thanatophoric dysplasia(parent)

Quick Facts

SNOMED CT: 389158007
UMLS CUI: C1300257
Fully Specified Name: Thanatophoric dysplasia, 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.