PEDBASE.org - The Pediatric Database - Detailed information of CHONDROECTODERMAL DYSPLASIA

CHONDROECTODERMAL DYSPLASIA

DEFINITION:

A non-lethal form of congenital dwarfism characterized by typical skeletal dysplasias (micromelia, narrowed thorax), polydactyly, and ectodermal manifestations.

EPIDEMIOLOGY:

incidence: rare
age of onset:
- newborn (polydactyly)
risk factors:
- familial - autosomal recessive (with variable expressivity)
  - chrom.#: ?
  - gene: ?
- M = F
- one Amish group in particular is affected

CLINICAL FEATURES:

1. Musculoskeletal Manifestations

1. Limbs

micromelia (proximal < distal shortening)
legs - genu valgum
hands - polydactyly (postaxial - 5th finger side)
others - clubfeet, bowed humerus

2. Ectodermal Manifestations

cleft lip and palate
natal teeth
thin upper lip with multiple frenula
hypoplastic nails

3. Other Manifestations

1. Respiratory

hypoplastic lungs -> neonatal asphyxia, recurrent respiratory infections

2. Cardiovascular

ASD (50%)
- +/- congestive heart failure

3. Miscellaneous

crytorchidism, hypospadias
Dandy-Walker Malformation
short stature (dwarf)
thin hair

INVESTIGATIONS:

1. Imaging Studies

1. Skeletal X-Rays

limbs - as above, ulnar polydactyly, distal shortening
thorax - short ribs, narrow
pelvis - abnormalities

MANAGEMENT:

1. Supportive

respiratory distress, recurrent respiratory infections
cardiac defects, dental care, osteotomy

2. Prognosis

infant mortality rate: 50%
if survive infancy have normal life expectancy
adult height: 160 cm

Pediatric Database - CHONDROECTODERMAL DYSPLASIA

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