Autosomal dominant popliteal pterygium syndrome

disorder

SNOMED 718222000CUI C5848052

Overview

Autosomal dominant 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.

Cleft of palate

Very frequent (80-99%)HP:0000175

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Generalized hirsutism

Very frequent (80-99%)HP:0002230

Stiff joint

Very frequent (80-99%)HP:0001387

Syndactyly of feet

Very frequent (80-99%)HP:0001770

Abnormal nail morphology

Frequent (30-79%)HP:0001597

Alveolar synechiae

Frequent (30-79%)HP:0009754

Ankyloblepharon filiforme adnatum

Frequent (30-79%)HP:0009755

Cleft of upper lip

Frequent (30-79%)HP:0000204

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Cryptorchidism

Frequent (30-79%)HP:0000028

Lip pit

Frequent (30-79%)HP:0100267

Non-midline cleft of the upper lip

Frequent (30-79%)HP:0100335

Nonketotic hyperglycinemia

Frequent (30-79%)HP:0008288

Partial syndactyly

Frequent (30-79%)HP:0006101

Popliteal pterygium

Frequent (30-79%)HP:0009756

Rib anomalies

Frequent (30-79%)HP:0000772

Scrotal cleft

Frequent (30-79%)HP:0000048

Smaller than typical growth of scrotum

Frequent (30-79%)HP:0000046

Underdeveloped vaginal lips

Frequent (30-79%)HP:0000059

Uvula bifida

Frequent (30-79%)HP:0000193

Webbed fingers

Frequent (30-79%)HP:0010554

Ambiguous external genitalia

Occasional (5-29%)HP:0000062

Choanal atresia

Occasional (5-29%)HP:0000453

Lower lip pit

Occasional (5-29%)HP:0000196

Specific learning disability

Occasional (5-29%)HP:0001328

Split hand

Occasional (5-29%)HP:0001171

Fetal foot inversion

HP:0001762

Intercrural pterygium

HP:0009757

Related Conditions

Autosomal dominant hereditary disorder(parent)

Popliteal pterygium syndrome(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718222000
UMLS CUI: C5848052
Fully Specified Name: Autosomal dominant 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.