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

Absent ears

Very frequent (80-99%)HP:0009892

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Atretic auditory canal

Very frequent (80-99%)HP:0000413

Cryptorchidism

Very frequent (80-99%)HP:0000028

Curvature of little finger

Very frequent (80-99%)HP:0004209

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Feeding difficulties

Very frequent (80-99%)HP:0011968

Growth deficiency

Very frequent (80-99%)HP:0001510

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Loose-jointedness

Very frequent (80-99%)HP:0001382

Missing lower jaw

Very frequent (80-99%)HP:0009939

Narrow mouth

Very frequent (80-99%)HP:0000160

Poor weight gain

Very frequent (80-99%)HP:0001508

Retarded ossification

Very frequent (80-99%)HP:0002750

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

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

Laboured breathing

Frequent (30-79%)HP:0002098

Low-set ears

Frequent (30-79%)HP:0000369

Mental retardation, mild

Frequent (30-79%)HP:0001256

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.