Updated: 5/22/2021

Apert Syndrome

0%
Topic
Review Topic
0
0
0%
0%
Flashcards
1
N/A
N/A
Questions
3
0
0
0%
0%
Evidence
6
0
0
Topic
Images
https://upload.orthobullets.com/topic/6078/images/xray - rosebud hand - colorado_moved.jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo - colorado_moved.jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo_moved.jpg
https://upload.orthobullets.com/topic/6078/images/apert facies..jpg
https://upload.orthobullets.com/topic/6078/images/apert hands..jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo - rosebud hand - colorado_moved.jpg
  • Introduction
    • Syndrome characterized by
      • bilateral complex syndactyly of hands and feet
        • index, middle, and ring fingers most affected
      • symphalangism
      • premature fusion of cranial sutures (craniosynostosis) results in flattened skull and broad forehead (acrocephaly)
      • hypertelorism (increased distance between paired body parts, as in wide set eyes)
      • normal to moderately disabled cognitive function
      • glenoid hypoplasia
      • radioulnar synostosis
  • Epidemiology
    • Incidence
      • rare
        • 1/80,000 live births
  • Etiology
    • Genetics
      • autosomal dominant, but most new cases are sporadic
      • mutation of FGFr2 gene
  • Presentation
    • Physical exam
      • dysmorphic face
        • craniosynostosis results in flattened skull and facial features
      • rosebud hands (complex syndactyly where the index, middle, and ring finger share a common nail)
  • Imaging
    • Radiographs
      • will show complex syndactyly
  • Treatment
    • Operative
      • surgical release of border digits
        • indications
          • perform ~ 1 year of age
      • digit reconstruction
        • indications
          • perform ~ 1.5 years of age
        • to convert central three digits into two digits
  • Prognosis
    • Spectrum of normal to moderately disabled cognitive function

Please rate this review topic.

You have never rated this topic.

Thank you. You can rate this topic again in 12 months.

Flashcards (1)
Cards
1 of 1
Questions (3)

(OBQ12.251) An infant is brought to your office for evaluation of his hands. Clinical photos are shown in Figures A and B. The clinical features are most consistent with a genetic mutation in which of the following:

QID: 4611
FIGURES:
1

Sonic Hedgehog (SHH)

33%

(1559/4783)

2

FGFR2

42%

(2030/4783)

3

FGFR3

12%

(591/4783)

4

PMP22

7%

(318/4783)

5

COL1A1

5%

(248/4783)

L 5 C

Select Answer to see Preferred Response

(OBQ10.247) A 4-year-old child has flattened facial features, wide set eyes, and the hand deformity pictured in Figure A. Which of the following is the most likely diagnosis?

QID: 3346
FIGURES:
1

Apert's syndrome

76%

(2705/3557)

2

Multiple epiphyseal dysplasia

1%

(49/3557)

3

Cleidocranial dysplasia

11%

(392/3557)

4

Noonan syndrome

9%

(328/3557)

5

Achondroplasia

2%

(54/3557)

L 2 C

Select Answer to see Preferred Response

(OBQ07.142) Apert's syndrome is caused by a mutation in what gene?

QID: 803
1

Fibroblast growth factor receptor 2 (FGFR2)

68%

(1325/1952)

2

Fibroblast growth factor receptor 3 (FGFR3)

10%

(200/1952)

3

Collagen type II alpha 1 chain (COL2A1)

11%

(224/1952)

4

SED late (SEDL)

7%

(140/1952)

5

Fibrillin

2%

(47/1952)

L 3 D

Select Answer to see Preferred Response

Evidence (6)
VIDEOS & PODCASTS (1)
EXPERT COMMENTS (3)
Private Note