Hypochondroplasia

disorder

SNOMED 205468002CUI C0410529

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bulging forehead

Always present (100%)HP:0011220

Dwarfism, short-limbed

Always present (100%)HP:0008873

Flat nasal bridge

Always present (100%)HP:0005280

shortened long tubular bones

Always present (100%)HP:0003026

Widened interpedicular distance

Always present (100%)HP:0012679

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Brachydactyly

Very frequent (80-99%)HP:0001156

Micromelia

Very frequent (80-99%)HP:0002983

Short toes

Very frequent (80-99%)HP:0001831

Short-limb dwarfism identifiable during childhood

Very frequent (80-99%)HP:0011405

Abnormal metaphysis morphology

Frequent (30-79%)HP:0000944

Abnormality of pelvic girdle bone morphology

Frequent (30-79%)HP:0002644

Abnormality of the elbow

Frequent (30-79%)HP:0009811

Abnormality of the thighbone

Frequent (30-79%)HP:0002823

Genua vara

Frequent (30-79%)HP:0002970

Hypoplastic femoral neck

Frequent (30-79%)HP:0100864

Increased lumbar lordosis

Frequent (30-79%)HP:0002938

Ligamentous laxity

Frequent (30-79%)HP:0001382

Acanthosis nigricans

Occasional (5-29%)HP:0000956

Bowed long bones

Occasional (5-29%)HP:0006487

Large head

Occasional (5-29%)HP:0000256

Osteoarthritis

Occasional (5-29%)HP:0002758

Poor school performance

Occasional (5-29%)HP:0001249

Prominent swayback

Occasional (5-29%)HP:0003307

Scoliosis

Occasional (5-29%)HP:0002650

Sleep apnea

Occasional (5-29%)HP:0010535

Spinal stenosis

Occasional (5-29%)HP:0003416

Absent/small extremities

HP:0009815

Craniosyostosis

Excluded (<1%)HP:0001363

Related Conditions

Skeletal dysplasia(parent)

Congenital malformation syndromes associated with short stature(parent)

Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT: 205468002
UMLS CUI: C0410529
Fully Specified Name: Hypochondroplasia (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.