Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

disorder

SNOMED 773556006CUI C4750957

Overview

Short ulna, dysmorphism, hypotonia, 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.

Central hypotonia

Frequent (30-79%)HP:0001252

Curvature of digit

Frequent (30-79%)HP:0030084

Decreased body weight

Frequent (30-79%)HP:0004325

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Dysmorphic facies

Frequent (30-79%)HP:0001999

Hirsutism

Frequent (30-79%)HP:0001007

Hypoplasia of the ulna

Frequent (30-79%)HP:0003022

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased nasal width

Frequent (30-79%)HP:0000445

Low-set ears

Frequent (30-79%)HP:0000369

Mental retardation, mild

Frequent (30-79%)HP:0001256

Microtia

Frequent (30-79%)HP:0008551

Posterior flattening of the skull

Frequent (30-79%)HP:0005469

Protruding lower lip

Frequent (30-79%)HP:0000232

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Skeletal anomalies

Frequent (30-79%)HP:0000924

Thickening of the alae nasi

Frequent (30-79%)HP:0009928

Unibrow

Frequent (30-79%)HP:0000664

Zygomatic flattening

Frequent (30-79%)HP:0000272

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Increased width of the forehead

Occasional (5-29%)HP:0000337

Mental retardation, severe

Occasional (5-29%)HP:0010864

Moderate mental retardation

Occasional (5-29%)HP:0002342

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

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

Congenital hypoplasia of ulna(parent)

Global developmental delay(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773556006
UMLS CUI: C4750957
Fully Specified Name: Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.