Barber-Say syndrome

disorder

SNOMED 408537003CUI C1319466

Overview

Barber-Say 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.

Hypertrichosis

Always present (100%)HP:0000998

Abnormality of the face

Very frequent (80-99%)HP:0000271

Aplasia/Hypoplasia of the skin

Very frequent (80-99%)HP:0008065

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Bulbous nose

Very frequent (80-99%)HP:0000414

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Everted eyelid

Very frequent (80-99%)HP:0000656

Generalized hirsutism

Very frequent (80-99%)HP:0002230

Hypoacusis

Very frequent (80-99%)HP:0000365

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Large mouth

Very frequent (80-99%)HP:0000154

Loose redundant skin

Very frequent (80-99%)HP:0001582

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Sparse or absent eyebrows

Very frequent (80-99%)HP:0100840

Sparse or absent eyelashes

Very frequent (80-99%)HP:0200102

Breast aplasia

Frequent (30-79%)HP:0100783

Cryptorchidism

Frequent (30-79%)HP:0000028

Hypoplastic nipples

Frequent (30-79%)HP:0002557

Increased nasal width

Frequent (30-79%)HP:0000445

Low anterior hairline

Frequent (30-79%)HP:0000294

Microtia, first degree

Frequent (30-79%)HP:0011266

Narrow external auditory meatus

Frequent (30-79%)HP:0000402

Premature skin wrinkling

Frequent (30-79%)HP:0100678

Skin hyperelasticity

Frequent (30-79%)HP:0000974

Absent nipples

Occasional (5-29%)HP:0002561

Aplasia of the eyelids

Occasional (5-29%)HP:0011224

Atretic auditory canal

Occasional (5-29%)HP:0000413

Bilateral crossbite

Occasional (5-29%)HP:0000689

Related Conditions

Atrophic condition of skin(parent)

Ectodermal dysplasia(parent)

Congenital hypertrichosis(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic disease(parent)

Microstomia(parent)

Quick Facts

SNOMED CT: 408537003
UMLS CUI: C1319466
Fully Specified Name: Barber-Say 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.