Key Features: Sex disorders and skeletal dysplasias

Question 1

21-Hydroxylase Deficiency

Answer 1

Salt wasting, virilization/ambiguous genitalia in females

Question 2

Kallman

Answer 2

Hypogonadotropic hypogonadism with anosmia

Question 3

XL Adrenal Hypoplasia Congenita

Answer 3

Acute adrenal insufficiency, hypogonadotropic hypogonadism

Question 4

Achondroplasia

Answer 4

Most common form of dwarfism, 98% due to single FGFR3 point mutation, Peter Dinklage

Question 5

FGFR2 related Disorders

Answer 5

Antley-Bixler, Apert, Pfeiffer, Crouzon, craniosynostosis, bulging eyes

Question 6

Pfeiffer

Answer 6

Cloverleaf skull, Can also be sporadic (severe lethal)

Question 7

Cleidocranial Dysplasia

Answer 7

Absent clavicles

Question 8

Diastrophic Dysplasia

Answer 8

AR Dwarfism, unusual clubfoot, hitchhiker thumb

Question 9

Hypochondroplasia

Answer 9

Effectively less severe form of achondroplasia (a - absent vs hypo - less)

Question 10

McCune Albright

Answer 10

Coast of Maine café au lait, fibrous dysplasia

Question 11

Muenke

Answer 11

Craniosynostosis, hearing loss, FGFR3

Question 12

Multiple Exostoses

Answer 12

Multiple osteochondromas

Question 13

Saethre-Chotzen

Answer 13

Craniosynostosis (TWIST), acrocephaly

Question 14

Thanatophoric Dysplasia

Answer 14

Cloverleaf skull, severe dwarfism, lethal at/shortly after birth