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Autosomal recessive popliteal pterygium syndrome

disorder
SNOMED 722376008CUI C1849718

Overview

Autosomal recessive popliteal pterygium 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.

Absent anus
Always present (100%)HP:0002023
Absent external genitalia
Always present (100%)HP:0000042
Absent palm lines
Always present (100%)HP:0010489
Aplasia of the eyelids
Always present (100%)HP:0011224
Arthrogryposis multiplex
Always present (100%)HP:0002804
Corneal stromal opacity
Always present (100%)HP:0007759
Corneal ulcerations
Always present (100%)HP:0012804
Decreased fetal movement
Always present (100%)HP:0001558
Flexion contractures
Always present (100%)HP:0001371
Foot, talipes equinovarus
Always present (100%)HP:0001762
Hair loss
Always present (100%)HP:0001596
Heart shaped uterus
Always present (100%)HP:0000813
Increased distance between eyes
Always present (100%)HP:0000316
Low set umbilicus
Always present (100%)HP:0032527
Mask-like facies
Always present (100%)HP:0000298
Microtia
Always present (100%)HP:0008551
Mongoloid slant
Always present (100%)HP:0000582
Oligodactyly
Always present (100%)HP:0012165
Omphalocoele
Always present (100%)HP:0001539
Oral synechia
Always present (100%)HP:0010285
Pterygia
Always present (100%)HP:0001059
Short limbs
Always present (100%)HP:0009826
Short penis
Always present (100%)HP:0000054
Shortened long bones of hand
Always present (100%)HP:0010049
Skin tags
Always present (100%)HP:0010609
Small nail
Always present (100%)HP:0001792
Syndactyly
Always present (100%)HP:0001159
Tessier cleft
Always present (100%)HP:0002006
Thinning scalp hair
Always present (100%)HP:0002209
Thumb hypoplasia
Always present (100%)HP:0009778

Related Conditions

Ectodermal dysplasia(parent)
Popliteal pterygium syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
722376008
UMLS CUI
C1849718
Fully Specified Name
Autosomal recessive popliteal pterygium 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.