II. Epidemiology

  1. Incidence: 1 in 40,000 births
  2. Most common etiology for short-limb syndrome

III. Pathophysiology

  1. Hereditary (Autosomal Dominant)
  2. Disease of cartilage and endochondral bone growth

IV. Signs

  1. Facial features
    1. Recessed nasal bridge
    2. Large brachiocephalic head (prominent forehead)
    3. Prominent jaw
  2. Trunk and spine features
    1. Normal trunk
    2. Dorsal kyphosis
    3. Backward-tilting Sacrum
    4. Slight Abdominal distention
  3. Limb features
    1. Rhizomelic limb shortening
    2. Short muscular limbs
    3. Stubby hands with thick fingers

V. Associated conditions

  1. Eustachian Tube Dysfunction
  2. Sleep Apnea
  3. Hydrocephalus (infants)
  4. Lumbosacral spinal stenosis

VI. Radiology: Skeletal XRay

  1. Short bowed wide bones with expanded ends
  2. Increased bone density
  3. Characteristic cupping of metaphases
  4. Incomplete glenoid fossa and acetabulum
  5. Wide joint spaces

VII. Course

  1. Adult height: 4 feet
  2. Normal intelligence development

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Ontology: Achondroplasia (C0001080)

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

Ontology: Congenital dwarfism (C0856843)

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