Endocrinology Book

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Achondroplasia

Aka: Achondroplasia, Congenital Dwarfism
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  1. Epidemiology
    1. Incidence: 1 in 40,000 births
    2. Most common etiology for short-limb syndrome
  2. Pathophysiology
    1. Hereditary (autosomal dominant)
    2. Disease of cartilage and endochondral bone growth
  3. 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
  4. Associated conditions
    1. Eustachian tube dysfunction
    2. Sleep Apnea
    3. Hydrocephalus (infants)
    4. Lumbosacral spinal stenosis
  5. 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
  6. Course
    1. Adult height: 4 feet
    2. Normal intelligence development
  7. References
    1. Hall (1995) Pediatrics 95:443-451

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 (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.
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)
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D000130
ICD10 Q77.4
SnomedCT 190584003, 268273004, 86268005, 205467007, 268350005, 248299001
English Achondroplasias, CHONDRODYSTROPHIA FETALIS, DWARFISM, ACHONDROPLASTIC, Dwarf, achondroplastic, Achondroplastic physique, Chondrodystrophia foetalis, Physiologic dwarfism, Achondroplasia, Achondroplasia syndrome, Chondrodystrophy syndrome, ACHONDROPLASIA, ACH, achondroplasia, achondroplasia (diagnosis), DWARFISM ACHONDROPLASTIC, Achondroplasia [Disease/Finding], Achondroplastic Dwarf, chondrodystrophia, achondroplastic dwarfism, Chondrodystrophia fetalis, Congenital osteosclerosis, Achondroplastic dwarf, Achondroplastic dwarfism, Achondroplasia (disorder), Osteosclerosis congenita, chondrodysplasia; fetalis, dwarfism; achondroplastic, fetal; chondrodysplasia, achondroplastic; dwarfism, Achondroplastic physique (finding), osteosclerosis congenita, Chondrodystrophia, achondroplastic dwarf
Dutch achondroplastische dwerg, achondroplasie, achondroplastisch; dwerggroei, chondrodysplasie; foetalis, dwerggroei; achondroplastisch, foetaal; chondrodysplasie, Achondroplasia, Achondroplasie, Chondroplasie, a-
French Nain achondroplastique, Achondroplasie
German achondroplastischer Zwerg, Achondroplasie
Italian Nanismo acondroplasico, Acondroplasia
Portuguese Nanismo acondroplásico, Acondroplasia
Spanish Enanismo acondroplásico, Achondroplasia, Achondroplastic dwarf, Achondroplastic dwarfism, acondroplasia (trastorno), acondroplasia, condrodistrofia fetal, enano acondroplásico, complexión física de tipo acondroplásico, constitución física acondroplásica (hallazgo), constitución física acondroplásica, enanismo constitucional, enanismo psicológico, físico acondroplásico, 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ｾﾞ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
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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