- Differential Diagnosis
- Diseases
- Drugs
- More
-
- Try building your search one term at a time, and be as specific as you can! Search term example: "chronic cough".
- Do not enter multiple findings such as "anemia, chronic cough, weight loss, vomiting" all at the same time.
- After selecting your term from the search results a list of possible diagnoses will be generated. If the list is too long, you will be able to narrow it down by entering additional terms.
- Do not enter values such as "heart rhythm 110" or "sodium 125", instead use "tachycardia" or "hyponatremia".
- Disease Information
- Disease Comparison
-
Disease Processes ▼
- Auto Immune
- Vascular-Arteriosclerosis
- Biochemical
- Congenital-developmental
- Deficiency
- Degenrative-Necrosis
- Electromagnetic-Physics
- Eponymic
- Functional-Physiologic
- Hereditofamilial
- Iatrogenic
- Idiopathic
- Infected Organ-Abcess
- Infectious agent
- Inflammatory-Granulomatous
- Metabolic-Storage
- Neoplastic
- Poison Agent
- Poisoned Organ
- Radiation-Xray-trauma
- Mental
- Structural-Anatomic-Foreign body
- Surgical Procedure-Complication
- Trauma
- Use-age-Atrophic
- Endocrine-Vegetative
-
Major Organs-Systems ▼
- Systemic
- Pediatric
- Nervous & Sensory System (Neurology)
- Cardiovascular System
- Respiratory (Pulmonary) System
- Gastro-Intestinal (Digestive) System
- Urinary System
- Dermatologic System
- Endocrine System
- Immune System
- Musculoskeletal System
- Genital Reproductive System
- Hematopoietic System (Hematology)
- Lymphatic System
- Tissue/Cells/Organelles
Disease Information for Achondroplasia
- Clinical Manifestations
- Signs & Symptoms
- Particular physiognomy/Odd looking kids
- Broad forehead/facies
- Craniofacial Abnormalities/Congenital
- Low Nasal Bridge
- Prominent forehead/High forehead
- Head Lag Infant Sign
- Hypotonia
- Neck weakness/head nodding
- Short arms/legs
- Head Neck Floppy Infant Hypotonia Sign
- Intelligence normal
- Bowing of extremities
- Bowlegged/Genu varus
- Dysmorphic dwarfism/short stature
- Megalocephaly
- Short fingers/toes (Brachydactyly)
- Short Limbs Deformity
- Dysmorphic appearance/face
- Short stature
- Short stature Child
- Clinical Presentation & Variations
- Presentation/Multiple deformities newborn (odd look)
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Demographics & Risk Factors
- Population Group
- Child
- Population/Pediatrics population
- Family History
- Family history/Dwarfism
- Family history/Skeletal malformations
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Diagnostic Test Results
- X-RAY
- Xray/Bullet shaped vertebral bodies/Spine
- XRAY/Thickened shafts long bones
- Xray/Vertebral oval deformity
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Achondroplasia
- Craniosynostosis
- Dwarfism
- Glucose intolerance
- Kyphoscoliosis
- Nanism/dwarfism
- Neonatal Hypotonia/Floppy Baby Syndrome
- Obstructive sleep apnea/Children
- Spinal Canal caudal narrowing
- Spinal stenosis syndrome
- Hand anomalies
- Disease Mechanism & Classification
- Class
- CLASS/Cartilage involvement/disorder (ex)
- CLASS/Skeletal (category)
- Pathophysiology
- Pathophysiology/FGFR-3 gene abnormality
- Pathophysiology/Sporadic/hereditary/process
- Process
- PROCESS/Autosomal dominant hereditary disease (ex).
- PROCESS/Congenital/developmental (category)
- PROCESS/Multiple dysmorphic syndrome (ex)
- PROCESS/Anomalies/Deformities/Malformations (EX)
- PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
- PROCESS/Dystostosis/craniofacial (ex)
- Synonyms
- Synonym
- ACH, Achondroplasia, Achondroplasia (disorder), Achondroplasia syndrome, Achondroplasias, Achondroplastic dwarf, achondroplastic dwarfism, Achondroplastic physique, Achondroplastic physique (finding), chondrodysplasia fetalis, Chondrodystrophia, CHONDRODYSTROPHIA FETALIS, Chondrodystrophia foetalis, Chondrodystrophy syndrome, Congenital osteosclerosis, Dwarf achondroplastic, dwarfism achondroplastic, fetal chondrodysplasia, Osteosclerosis congenita, Physiologic dwarfism, Synonym/Chondrodystrophia fetalis, Synonym/Dwarfism, achondroplastic, Synonym/Fetal rickets syndrome, Synonym/Hypoplastic chondrodystrophy, Synonym/Narrow, Synonym/Parrot's syndrome
- Definition
-
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
(Edit)
- External Links Related to Achondroplasia
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
This site is designed primarily as a reminder system for use by qualified physicians and other medical professionals. By using this site you understand and accept that DiagnosisPro.com shall not be used as a diagnostic decision-making system and must not be used to make a clinical diagnosis or replace or overrule a licensed health care professional's judgment or clinical diagnosis (full terms of use). This site complies with the HONcode standard for trustworthy health information: verify here.
© 2013 MedTech USA, Inc. (last modified on 06/16/13)
