Brachymorphism with onychodysplasia and dysphalangism syndrome

disorder

SNOMED 720573009CUI C1862082

Overview

Brachymorphism with onychodysplasia and dysphalangism 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.

Abnormal toenail development

Very frequent (80-99%)HP:0100797

Absent toenails (anonychia)

Very frequent (80-99%)HP:0001802

Anonychia of fingernails

Very frequent (80-99%)HP:0001817

Brachydactyly

Very frequent (80-99%)HP:0001156

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Dysplastic fingernails

Very frequent (80-99%)HP:0100798

Hypoplastic toenails

Very frequent (80-99%)HP:0001800

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Short distal phalanx of toe

Very frequent (80-99%)HP:0001857

Small fingernail

Very frequent (80-99%)HP:0001804

Underdeveloped fifth fingernail

Very frequent (80-99%)HP:0008398

Biparietal narrowing

Frequent (30-79%)HP:0004422

Frontal protuberance

Frequent (30-79%)HP:0002007

High forehead

Frequent (30-79%)HP:0000348

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Inverted triangular face

Frequent (30-79%)HP:0000325

Large mouth

Frequent (30-79%)HP:0000154

Large nose

Frequent (30-79%)HP:0000448

Palpebronasal fold

Frequent (30-79%)HP:0000286

Small pointed chin

Frequent (30-79%)HP:0000307

Squint

Frequent (30-79%)HP:0000486

Abnormal mitral valve morphology

Occasional (5-29%)HP:0001633

Abnormality of the respiratory system

Occasional (5-29%)HP:0002086

Atria septal defect

Occasional (5-29%)HP:0001631

Curvature of little finger

Occasional (5-29%)HP:0004209

Generalized hirsutism

Occasional (5-29%)HP:0002230

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Small stature(parent)

Hereditary disorder of the integument(parent)

Genetic disorder of nail(parent)

Developmental hereditary disorder(parent)

Congenital hypoplasia of extremity(parent)

Genetic intellectual disability(parent)

Congenital dysplasia of nail unit(parent)

Quick Facts

SNOMED CT: 720573009
UMLS CUI: C1862082
Fully Specified Name: Brachymorphism with onychodysplasia and dysphalangism 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.