Short stature, brachydactyly, obesity, global developmental delay syndrome

disorder

SNOMED 1187277001CUI C5568868

Overview

Short stature, brachydactyly, obesity, global developmental delay 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.

Bilateral fourth metatarsal shortening

Very frequent (80-99%)HP:0004689

Brachydactyly

Very frequent (80-99%)HP:0001156

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Deep set eye

Very frequent (80-99%)HP:0000490

Deformity of face

Very frequent (80-99%)HP:0001999

Hypotonia, early

Very frequent (80-99%)HP:0008947

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Mental deficiency

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Skeletal anomalies

Very frequent (80-99%)HP:0000924

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Cryptorchidism

Frequent (30-79%)HP:0000028

Dermatitis

Frequent (30-79%)HP:0000964

Flat facial shape

Frequent (30-79%)HP:0012368

Gum enlargement

Frequent (30-79%)HP:0000212

Increased distance between eyes

Frequent (30-79%)HP:0000316

Mental retardation, mild

Frequent (30-79%)HP:0001256

Mental retardation, severe

Frequent (30-79%)HP:0010864

Nostrils anteverted

Frequent (30-79%)HP:0000463

Obesity

Frequent (30-79%)HP:0001513

Protruding forehead

Frequent (30-79%)HP:0011220

Retruded nasal dorsum

Frequent (30-79%)HP:0000457

Seizures

Frequent (30-79%)HP:0001250

Short neck

Frequent (30-79%)HP:0000470

Specific learning disability

Frequent (30-79%)HP:0001328

Squint

Frequent (30-79%)HP:0000486

Abnormal conus medullaris morphology

Occasional (5-29%)HP:0031938

Abnormality of the endocrine system

Occasional (5-29%)HP:0000818

Dacrocystitis

Occasional (5-29%)HP:0000620

Decreased size of cranium

Occasional (5-29%)HP:0000252

Related Conditions

Global developmental delay(parent)

Small stature(parent)

Acromesomelic dysplasia syndrome(parent)

Brachydactyly of hand(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Hypoplasia of distal phalanx of hand(parent)

Genetic intellectual disability(parent)

Congenital hypoplasia of phalanx of hand(parent)

Quick Facts

SNOMED CT: 1187277001
UMLS CUI: C5568868
Fully Specified Name: Short stature, brachydactyly, obesity, global developmental delay 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.