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Achondroplasia
Aka: Achondroplasia, Congenital Dwarfism- Epidemiology
- Incidence: 1 in 40,000 births
- Most common etiology for short-limb syndrome
- Pathophysiology
- Hereditary (Autosomal Dominant)
- Disease of cartilage and endochondral bone growth
- Signs
- Facial features
- Recessed nasal bridge
- Large brachiocephalic head (prominent forehead)
- Prominent jaw
- Trunk and spine features
- Normal trunk
- Dorsal kyphosis
- Backward-tilting Sacrum
- Slight Abdominal Distention
- Limb features
- Rhizomelic limb shortening
- Short muscular limbs
- Stubby hands with thick fingers
- Facial features
- Associated conditions
- Eustachian Tube Dysfunction
- Sleep Apnea
- Hydrocephalus (infants)
- Lumbosacral spinal stenosis
- Radiology: Skeletal XRay
- Short bowed wide bones with expanded ends
- Increased bone density
- Characteristic cupping of metaphases
- Incomplete glenoid fossa and acetabulum
- Wide joint spaces
- Course
- Adult height: 4 feet
- Normal intelligence development
- References
Achondroplasia (C0001080) |
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Definition (MSH) | 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) |
Definition (NCI) | 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. (MeSH) |
Definition (CSP) | autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation. |
Concepts | Congenital Abnormality (T019) , Disease or Syndrome (T047) |
MSH | D000130 |
ICD10 | Q77.4 |
SnomedCT | 268273004, 248299001, 205467007, 190584003, 268350005, 86268005 |
English | Achondroplasias, Achondroplastic physique, Achondroplasia, ACHONDROPLASIA, ACH, achondroplasia, achondroplasia (diagnosis), Achondroplasia [Disease/Finding], Achondroplastic Dwarf, chondrodystrophia, achondroplastic dwarfism, Achondroplastic physique (finding), Physiologic dwarfism, Chondrodystrophia fetalis, Congenital osteosclerosis, Achondroplastic dwarf, Achondroplastic dwarfism, Achondroplasia (disorder), Osteosclerosis congenita, chondrodysplasia; fetalis, dwarfism; achondroplastic, fetal; chondrodysplasia, achondroplastic; dwarfism, Chondrodystrophia foetalis, osteosclerosis congenita, Chondrodystrophia, achondroplastic dwarf |
Dutch | achondroplastische dwerg, achondroplasie, achondroplastisch; dwerggroei, chondrodysplasie; foetalis, dwerggroei; achondroplastisch, foetaal; chondrodysplasie, Achondroplasia, Achondroplasie, Chondroplasie, a- |
French | Nain achondroplastique, Maladie de Parrot, Chondrodystrophie foetale, Nanisme achondroplasique, Achondroplasie |
German | achondroplastischer Zwerg, Achondroplasie |
Italian | Nanismo acondroplasico, Acondroplasia |
Portuguese | Nanismo acondroplásico, Acondroplasia |
Spanish | Enanismo acondroplásico, constitución física acondroplásica (hallazgo), complexión física de tipo acondroplásico, constitución física acondroplásica, enanismo constitucional, físico acondroplásico, acondroplasia (trastorno), acondroplasia, condrodistrofia fetal, enano acondroplásico, enanismo psicológico, Acondroplasia |
Japanese | 軟骨無形成症, ナンコツムケイセイショウ, ナンコツケイセイフゼンセイテイシンチョウショウ, 軟骨形成不全性低身長症 |
Swedish | Akondroplasi |
Czech | achondroplazie, Achondroplazie, Achondroplastický trpaslík |
Finnish | Akondroplasia |
Russian | APLAZIIA DIAFIZARNAIA, KHONDRODISTROFIIA GIPOPLASTICHESKAIA, AKHONDROPLAZIIA, KHONDRODISTROFIIA, KHONDRODISTROFIIA VROZHDENNAIA, PARRO-MARI BOLEZN', АПЛАЗИЯ ДИАФИЗАРНАЯ, АХОНДРОПЛАЗИЯ, ПАРРО-МАРИ БОЛЕЗНЬ, ХОНДРОДИСТРОФИЯ, ХОНДРОДИСТРОФИЯ ВРОЖДЕННАЯ, ХОНДРОДИСТРОФИЯ ГИПОПЛАСТИЧЕСКАЯ |
Korean | 연골무형성증 |
Croatian | AHONDROPLAZIJA |
Polish | Achondroplazja |
Hungarian | Achondroplasiás törpe, Achondroplasia |
Norwegian | Akondroplasi |
Sources |
Derived from the NIH UMLS (Unified Medical Language System) |
Congenital dwarfism (C0856843) |
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Concepts | Congenital Abnormality (T019) |
Dutch | congenitale dwerggroei, congenitaal; dwerggroei, dwerggroei; congenitaal |
French | Nanisme congénital |
German | kongenitaler Zwergwuchs |
Italian | Nanismo congenito |
Portuguese | Nanismo congénito |
Spanish | Enanismo congénito |
Japanese | 先天性低身長症, センテンセイテイシンチョウショウ |
Czech | Vrozený nanismus |
English | Congenital dwarfism, congenital; dwarfism, dwarfism; congenital |
Hungarian | Veleszületett törpe |
Sources |
Derived from the NIH UMLS (Unified Medical Language System) |
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