SHORT RIB-POLYDACTYLY SYNDROME (SRP)
 
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SHORT RIB-POLYDACTYLY SYNDROME (SRP)

 

DEFINITION:

Two lethal types of congenital dwarfism characterized by typical skeletal dysplasias (micromelia, narrowed thorax), polydactyly, and respiratory manifestations.

EPIDEMIOLOGY:

  • incidence: 40 cases (SRP-1); >40 cases (SRP-2)
  • age of onset:
    • newborn
  • risk factors:
    • familial - autosomal recessive
      • chrom.#: ?
      • gene: ?
    • F > M (SRP-1); M = F (SRP-2)

PATHOGENESIS:

1. Types

  • 1. SRP-1 (Saldino-Noonan)
  • 2. SRP-2 (Majewski)

    • CLINICAL FEATURES:

    1. Musculoskeletal Manifestations

    1. Limbs

    • micromelia
    • polydactyly (postaxial)

    2. Thorax

    • narrow

    2. Respiratory Manifestations

    • hypoplasia -> neonatal asphyxia

    3. Others

    • SRP-1 - cloanal anomalies: anal atresia, urogenital sinus
    • SRP-2 - cleft upper lip or palate, hypoplastic epiglottis,
    • Cardiovascular defects

    INVESTIGATIONS:

    1. Imaging Studies

    1. Skeletal X-Rays

    • limbs - as above
    • thorax - extremely short horizontal ribs
    • pelvis - SRP-1 - small and hypoplasic
    • pelvis - SRP-2 - normal

    MANAGEMENT:

    1. Supportive

    • respiratory distress

    2. Prognosis

    • lethal at or shortly after birth

     

     

     

    Pediatric Database - SHORT RIB-POLYDACTYLY SYNDROME (SRP)

     

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