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Cutis gyrata syndrome of Beare and Stevenson

disorder
SNOMED 703528008CUI C1852406

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.

Atretic auditory canal
Always present (100%)HP:0000413
Chiari malformation
Always present (100%)HP:0002308
Coanal stenosis
Always present (100%)HP:0000452
Crease in skin under the eye
Always present (100%)HP:0100876
Dilated cerebral ventricle
Always present (100%)HP:0002119
Divergent strabismus
Always present (100%)HP:0020049
Feeding difficulties in infancy
Always present (100%)HP:0008872
Flat back of skull
Always present (100%)HP:0005469
Furrowed palms and soles
Always present (100%)HP:0007517
Gingival hyperplasia
Always present (100%)HP:0000212
High arched palate
Always present (100%)HP:0000218
Hypoplasia of supraorbital margins
Always present (100%)HP:0009891
Hypospadias
Always present (100%)HP:0000047
Mental and motor retardation
Always present (100%)HP:0001263
Natal tooth
Always present (100%)HP:0000695
Overlapping toes
Always present (100%)HP:0001845
Posteriorly angulated ears
Always present (100%)HP:0000358
Preauricular earpits
Always present (100%)HP:0004467
Prominent nasal root
Always present (100%)HP:0000426
Redundant neck skin
Always present (100%)HP:0005989
Redundant umbilical skin
Always present (100%)HP:0034361
Scalp folds
Always present (100%)HP:0010541
Skin tags
Always present (100%)HP:0010609
Small fingernail
Always present (100%)HP:0001804
Underdeveloped vaginal lips
Always present (100%)HP:0000059
Uvula bifida
Always present (100%)HP:0000193
Abnormality of the face
Very frequent (80-99%)HP:0000271
Abnormality of the pancreas
Very frequent (80-99%)HP:0001732
Abnormality of the skull bones
Very frequent (80-99%)HP:0000929
Absent/underdeveloped ear lobes
Very frequent (80-99%)HP:0009906

Related Conditions

Autosomal dominant hereditary disorder(parent)
Congenital anomaly of skin(parent)
Hereditary disorder of musculoskeletal system(parent)
Craniosynostosis syndrome(parent)
Inherited disorder of keratinization(parent)
Acanthosis nigricans(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
703528008
UMLS CUI
C1852406
Fully Specified Name
Cutis gyrata syndrome of Beare and Stevenson (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.