Overview
Ablepharon macrostomia 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.
Microtia, first degree
Always present (100%)HP:0011266
Absent eyebrows
Very frequent (80-99%)HP:0002223
Aplasia of the eyelids
Very frequent (80-99%)HP:0011224
Delayed language development
Very frequent (80-99%)HP:0000750
Failure of development of eyelashes
Very frequent (80-99%)HP:0000561
Fine hair
Very frequent (80-99%)HP:0002213
Hypotrophic cheekbone
Very frequent (80-99%)HP:0010669
Large mouth
Very frequent (80-99%)HP:0000154
Loose redundant skin
Very frequent (80-99%)HP:0001582
Microtia
Very frequent (80-99%)HP:0008551
Small nasal alae
Very frequent (80-99%)HP:0000430
Thin, sparse hair
Very frequent (80-99%)HP:0008070
Underdeveloped vaginal lips
Very frequent (80-99%)HP:0000059
Abnormal female external genitalia
Frequent (30-79%)HP:0000055
Absent lanugo
Frequent (30-79%)HP:0034262
Ambiguous external genitalia
Frequent (30-79%)HP:0000062
Anteriorly displaced anus
Frequent (30-79%)HP:0001545
Aplasia/Hypoplasia of the nipples
Frequent (30-79%)HP:0006709
Camptodactyly
Frequent (30-79%)HP:0012385
Cognitive delay
Frequent (30-79%)HP:0001263
Cryptophthalmos
Frequent (30-79%)HP:0001126
Decreased projection of maxilla
Frequent (30-79%)HP:0000327
Dry skin
Frequent (30-79%)HP:0000958
Excessive wrinkled skin
Frequent (30-79%)HP:0007392
Hypoacusis
Frequent (30-79%)HP:0000365
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Hypoplastic nipples
Frequent (30-79%)HP:0002557
Impaired vision
Frequent (30-79%)HP:0000505
Increased distance between eyes
Frequent (30-79%)HP:0000316
Low-set ears
Frequent (30-79%)HP:0000369
Related Conditions
Autosomal dominant hereditary disorder(parent)
Ablepharon(parent)
Congenital macrostomia(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of the visual system(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 718575002
- UMLS CUI
- C1860224
- Fully Specified Name
- Ablepharon macrostomia 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.