Disease/Condition by traits/symptoms

Question 1

Diagnosis?

1. short stature
2. delayed closure of cranial fontanels and sutures
3. Wormian bones
4. frontal bossing
5. late erupting teeth
6. rudimentary or absent clavicle

Answer 1

Cleidocranial Dysplasia

Question 2

Diagnosis?

Progressive loss of alpha-motor neurons in anterior horn of spinal cord

Answer 2

SMA

Question 3

Diagnosis?

1. ligamentous hyperlaxity
2. abnormal facial features
3. multiple joint dislocations

Answer 3

Larsen’s Syndrome

(aka God’s joke on humans)

Question 4

Who am I?

Mutation on 17q21

AD or DeNovo

Increased RAS activity

AL tibial bowing

Radial Bowing

Answer 4

NF1

Question 5

Diagnosis?

A short Finlander.

Answer 5

Diastrophic Dysplasia

Question 6

Diagnosis?

• facial features
• frontal bossing
• button noses
• small nasal bridges
• extremities
• trident hands (inability to approximate extended middle and ring finger)
• bowed legs
• radial head subluxation
• muscular hypotonia

Answer 6

Achondroplasia

Question 7

Diagnosis?

Contractures: adduction and internal rotation of the shoulders, hip flexion and subluxation/dislocation, knee rigidity, and club feet.

Not progressive

Answer 7

Arthrogryposis

Question 8

Who am I?

• rhizomelic limb shortening
• normal intelligence
• frontal bossing
• spinal stenosis

Answer 8

Achondroplasia

Question 9

Diagnosis?

codfish vertebrae (compression fx)

basilar invagination

Answer 9

OI

Question 10

Diagnosis?

1. ataxia
2. areflexia
3. positive plantar response

Answer 10

Freidrichs Ataxia

Question 11

Diagnosis?

Flat face

Short

AAI

Genu Valgum

Answer 11

SED

Question 12

Diagnosis?

1. proportionate dwarfism
2. increased rate of carpal tunnel syndrome
3. C1-C2 instability
4. delayed hip dysplasia
5. abnormal epiphyses
6. bullet-shaped phalanges
7. genu valgum

Answer 12

Mucopolysaccharidosis