Rothmund Thomson syndrome type 2

disorder

SNOMED 1003923009CUI C5203410

Overview

Rothmund Thomson 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.

Abnormally small eyeball

Always present (100%)HP:0000568

Concave bridge of nose

Always present (100%)HP:0005280

Decreased size of teeth

Always present (100%)HP:0000685

Disproportionately small hands

Always present (100%)HP:0200055

Hypoplastic mandible

Always present (100%)HP:0000347

Increased distance between eyes

Always present (100%)HP:0000316

Narrow palpebral fissure

Always present (100%)HP:0045025

Palpebronasal fold

Always present (100%)HP:0000286

Prominent antihelix

Always present (100%)HP:0000395

Thinning scalp hair

Always present (100%)HP:0002209

Erythema

Very frequent (80-99%)HP:0010783

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hypopigmentation of the skin

Very frequent (80-99%)HP:0001010

Patchy darkened skin

Very frequent (80-99%)HP:0000953

Poikiloderma

Very frequent (80-99%)HP:0001029

Birth weight less than 10th percentile

Frequent (30-79%)HP:0001518

Decreased body height

Frequent (30-79%)HP:0004322

Decreased hair growth

Frequent (30-79%)HP:0008070

Dull intelligence

Frequent (30-79%)HP:0001249

Dystrophic nails

Frequent (30-79%)HP:0008404

Failure of development of eyelashes

Frequent (30-79%)HP:0000561

Growth deficiency

Frequent (30-79%)HP:0001510

Loss of eyebrows

Frequent (30-79%)HP:0002223

Multiple skeletal anomalies

Frequent (30-79%)HP:0005775

Nail dysplasia

Frequent (30-79%)HP:0002164

Overfolded helix

Frequent (30-79%)HP:0000396

Poorly folded helices

Frequent (30-79%)HP:0008577

Red face

Frequent (30-79%)HP:0001041

Skin degeneration

Frequent (30-79%)HP:0004334

Sparse eyebrow

Frequent (30-79%)HP:0045075

Related Conditions

Rothmund-Thomson syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1003923009
UMLS CUI: C5203410
Fully Specified Name: Rothmund Thomson syndrome 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.