Radioulnar synostosis with microcephaly and scoliosis syndrome

disorder

SNOMED 719162001CUI C3150890

Overview

Radioulnar synostosis with microcephaly and scoliosis 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 dermatoglyphics

Very frequent (80-99%)HP:0007477

Abnormality of the elbow

Very frequent (80-99%)HP:0009811

Abnormality of the philtrum

Very frequent (80-99%)HP:0000288

Curvature of little finger

Very frequent (80-99%)HP:0004209

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Fused forearm bones

Very frequent (80-99%)HP:0002974

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental-retardation

Very frequent (80-99%)HP:0001249

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Partial syndactyly

Very frequent (80-99%)HP:0006101

Pectus carinatum

Very frequent (80-99%)HP:0000768

Premature birth

Very frequent (80-99%)HP:0001622

Retarded ossification

Very frequent (80-99%)HP:0002750

Rib anomalies

Very frequent (80-99%)HP:0000772

Scoliosis

Very frequent (80-99%)HP:0002650

Thick eyebrow

Very frequent (80-99%)HP:0000574

Tooth abnormalities

Very frequent (80-99%)HP:0000164

Unibrow

Very frequent (80-99%)HP:0000664

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Small stature(parent)

Scoliosis deformity of spine(parent)

Congenital microcephalus(parent)

Congenital radioulnar synostosis(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719162001
UMLS CUI: C3150890
Fully Specified Name: Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.