Microtia, absent patellae, micrognathia syndrome

disorder

SNOMED 703508009CUI C1868684

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.

Feeding difficulties in infancy

Always present (100%)HP:0008872

Microtia

Always present (100%)HP:0008551

Underdeveloped breasts

Always present (100%)HP:0003187

Abnormality of the auricle

Very frequent (80-99%)HP:0000356

Agnathia

Very frequent (80-99%)HP:0009939

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Anotia

Very frequent (80-99%)HP:0009892

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Delayed skeletal development

Very frequent (80-99%)HP:0002750

External auditory meatal atresia

Very frequent (80-99%)HP:0000413

Feeding difficulties

Very frequent (80-99%)HP:0011968

Growth deficiency

Very frequent (80-99%)HP:0001510

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Narrow mouth

Very frequent (80-99%)HP:0000160

Permanent curving of the pinkie finger

Very frequent (80-99%)HP:0004209

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Retrognathia

Very frequent (80-99%)HP:0000278

Short stature, severe

Very frequent (80-99%)HP:0003510

Slender long bone

Very frequent (80-99%)HP:0003100

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Third-degree microtia

Very frequent (80-99%)HP:0011267

Aplastic clavicle

Frequent (30-79%)HP:0006660

Back knee

Frequent (30-79%)HP:0002816

Clitoral hypoplasia

Frequent (30-79%)HP:0000060

Craniosyostosis

Frequent (30-79%)HP:0001363

Deficiency of upper jaw bones

Frequent (30-79%)HP:0000327

Difficulty breathing

Frequent (30-79%)HP:0002094

Laboured breathing

Frequent (30-79%)HP:0002098

Related Conditions

Primordial dwarfism(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 703508009
UMLS CUI: C1868684
Fully Specified Name: Ear, patella, short stature 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.