Say-Barber-Biesecker-Young-Simpson syndrome

disorder

SNOMED 699298009CUI C1863557

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.

Mental retardation, severe

Always present (100%)HP:0010864

Blepharophimosis

Very frequent (80-99%)HP:0000581

Bulbous nose

Very frequent (80-99%)HP:0000414

Cryptorchidism

Very frequent (80-99%)HP:0000028

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Hypothyroidism

Very frequent (80-99%)HP:0000821

Increased nasal height

Very frequent (80-99%)HP:0003189

Large nose

Very frequent (80-99%)HP:0000448

Low-set ears

Very frequent (80-99%)HP:0000369

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Prominent back of the head

Very frequent (80-99%)HP:0000269

Retrognathia

Very frequent (80-99%)HP:0000278

Short palpebral fissure

Very frequent (80-99%)HP:0012745

Short stature, severe

Very frequent (80-99%)HP:0003510

Sloping forehead

Very frequent (80-99%)HP:0000340

Specific learning disability

Very frequent (80-99%)HP:0001328

Aberrant thyroid

Frequent (30-79%)HP:0100028

Abnormal antihelix morphology

Frequent (30-79%)HP:0009738

Abnormality of the cheek

Frequent (30-79%)HP:0004426

Atria septal defect

Frequent (30-79%)HP:0001631

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased size of cranium

Frequent (30-79%)HP:0000252

Feeding difficulties

Frequent (30-79%)HP:0011968

Growth failure

Frequent (30-79%)HP:0001510

Hole in center of heart

Frequent (30-79%)HP:0006695

Related Conditions

Hereditary disorder of the visual system(parent)

Autosomal dominant hereditary disorder(parent)

Congenital hypothyroidism(parent)

Hereditary disorder of endocrine system(parent)

Accessory digit(parent)

Blepharophimosis, intellectual disability syndrome(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 699298009
UMLS CUI: C1863557
Fully Specified Name: Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (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.