Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

disorder

SNOMED 1172685001CUI C4225222

Overview

Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 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.

Microcephaly, progressive

Always present (100%)HP:0000253

Sensorineural deafness

Always present (100%)HP:0000407

Brain imaging abnormality

Very frequent (80-99%)HP:0410263

Distortion of face

Very frequent (80-99%)HP:0001999

Abnormality of the periventricular white matter

Frequent (30-79%)HP:0002518

Ataxia

Frequent (30-79%)HP:0001251

Cardiac anomaly

Frequent (30-79%)HP:0001627

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Dull intelligence

Frequent (30-79%)HP:0001249

Endocrine system disease

Frequent (30-79%)HP:0000818

Genitourinary dysplasia

Frequent (30-79%)HP:0000119

Growth delay as children

Frequent (30-79%)HP:0008897

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Large platelets

Frequent (30-79%)HP:0011877

Low platelet count

Frequent (30-79%)HP:0001873

Pectus deformities

Frequent (30-79%)HP:0000766

Predisposition to infections

Frequent (30-79%)HP:0002719

Abnormality of the lymphatic system

Occasional (5-29%)HP:0100763

Angle class 2 malocclusion

Occasional (5-29%)HP:0000689

Attachment of thumb close to wrist

Occasional (5-29%)HP:0009623

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Bulbous nose

Occasional (5-29%)HP:0000414

Bulging forehead

Occasional (5-29%)HP:0011220

Camptodactyly

Occasional (5-29%)HP:0012385

Cerebellar dysplasia

Occasional (5-29%)HP:0007033

Cognitive delay

Occasional (5-29%)HP:0001263

Curvature of digit

Occasional (5-29%)HP:0030084

Dandy-Walker cyst

Occasional (5-29%)HP:0001305

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Related Conditions

Global developmental delay(parent)

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Megakaryocytic thrombocytopenia(parent)

Hereditary lymphedema(parent)

Hereditary thrombocytopenic disorder(parent)

Congenital thrombocytopenia(parent)

Autosomal dominant hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172685001
UMLS CUI: C4225222
Fully Specified Name: Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (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.