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.