Endocrinology Book

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AchondroplasiaAka: 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

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)
ConceptsCongenital Abnormality (T019) , Disease or Syndrome (T047)
ICD9756.4
MSHD000130
EnglishACH, Achondroplasia, Achondroplasias, Achondroplastic dwarf, Achondroplastic dwarfism, Achondroplastic physique, Chondrodystrophia, Chondrodystrophia fetalis, Chondrodystrophia foetalis, Congenital osteosclerosis, Osteosclerosis congenita, Physiologic dwarfism
Spanishacondroplasia, complexion fisica de tipo acondroplasico, condrodistrofia fetal, constitucion fisica acondroplasica, enanismo constitucional, enanismo psicologico, enano acondroplasico, fisico acondroplasico
Parent ConceptsDwarfism (C0013336), Hereditary Diseases (C0019247), congenital skeletal disorder (C0178568), Osteochondrodysplasias (C0029422), Non-Neoplastic Bone Disorder (C1334997), Achondrogenesis (C0001079), Defects of the tubular (and flat) bones and/or axial skeleton (C0432187), Epiphysis disorders (C0700136), Ambiguous concept (C1274012), Duplicate concept (C1274013)
SourcesCOSTAR, CSP, CST, DXP, LCH, MEDLINEPLUS, MSH, MTH, MTHICD9, NCI, NDFRT, OMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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