Brachycephaly, deafness, cataract, intellectual disability syndrome

disorder

SNOMED 720955004CUI C0795941

Overview

Brachycephaly, deafness, cataract, intellectual disability 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.

Flat facial shape

Very frequent (80-99%)HP:0012368

Growth delay as children

Very frequent (80-99%)HP:0008897

Mental-retardation

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Arnold Chiari type I malformation

Frequent (30-79%)HP:0007099

Bilateral ptosis

Frequent (30-79%)HP:0001488

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cleft of palate

Frequent (30-79%)HP:0000175

Congenital cataracts, bilateral

Frequent (30-79%)HP:0000519

Cryptorchidism

Frequent (30-79%)HP:0000028

Curvature of little finger

Frequent (30-79%)HP:0004209

Decreased body height

Frequent (30-79%)HP:0004322

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Flat nasal bridge

Frequent (30-79%)HP:0005280

High forehead

Frequent (30-79%)HP:0000348

Hypotonia, early

Frequent (30-79%)HP:0008947

Impaired vision

Frequent (30-79%)HP:0000505

Increased distance between eyes

Frequent (30-79%)HP:0000316

Lens opacities

Frequent (30-79%)HP:0000518

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Microtia

Frequent (30-79%)HP:0008551

Mongoloid slant

Frequent (30-79%)HP:0000582

Narrow mouth

Frequent (30-79%)HP:0000160

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Partial anodontia

Frequent (30-79%)HP:0000677

Partial unilateral facial paresis

Frequent (30-79%)HP:0011333

Plagiocephaly

Frequent (30-79%)HP:0001357

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Prominent frontal suture

Frequent (30-79%)HP:0005487

Related Conditions

Brachycephaly(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital abnormality of skull shape(parent)

Developmental hereditary disorder(parent)

Congenital deformity of musculoskeletal system(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 720955004
UMLS CUI: C0795941
Fully Specified Name: Fine Lubinsky 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.