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1
Q

Neurofibromatosis

A

AD. Ch17. Neurofibromin gene

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2
Q

MHE

A

EXT1 (worst), EXT2, EXT3 (best).
Autosomal dominant

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3
Q

Fibrous dysplasia’s

A

Gs alpha subunit of G protein coupled receptor
Increase cAMP
McCune Albright - precocious puberty, cafe au lait
Mazabraud - Intramuscular myxomas

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4
Q

Cleidocranial dysplasia

A

RUNX2/CBFA-1 - no clavicles

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5
Q

MED/SED

A

MED - AD - COMP/Type 9 collagen / matrillin 3
SED - COL2A1

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6
Q

Achondroplasia

A

AD Ch4, FGFR-3, increased tyrosine kinase activity in proliferative zone, inhibits chondrocyte proliferation and maturation

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7
Q

Aperts and other craniosynostoses

A

FGFR-2, usually AD
Dysmorphic face, complex syndactyly
Rosebud hand - index/middle/ring share common nail

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8
Q

Diastrophic dysplasia

A

DTDST, AR, Ch5
Dwarf, hitchhikers thumb, cauliflower ear, cervical kyphosis

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9
Q

Gauchers

A

AR, glucocerebrosidase deficiency
Sphingolipid accumulation
- marrow replacement (anaemia, infection, coagulopathy)
- brain - seizures and developmental delay
- bone pain and bone crisis

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10
Q

Olliers and Maffuci

A

IDH-1
Sporadic only
Olliers also: PTHrP and Indian hedgehog gene
Note maffuci also has soft tissue angiomas and increased visceral malignancies

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11
Q

Osteopetrosis

A

CLCN7 - chloride channel - Carbonic anhydrase dysfunction

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12
Q

Osteopoikiliosis

A

AD, LEMD3, negative bone scan and no followup

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13
Q

Friedreich ataxia

A

AR, Ch9 GAA repeat
Frataxin gene absence for diagnosis
Ataxia, areflexia, babinski
- also scoli and cavovarus feet

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14
Q

Retts

A

XD - Xp28
MECP2
Present in females only >6-18M then progresses rapidly until 3Y then slower until 10Y
- apraxia, learning difficulties, seizures, scoliosis (C-shaped), abnormal breathing

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15
Q

Familial hypophosphatemic rickets / Vit D resistant

A

XD - PHEX mutant; proximal tubules unable to reabsorb phosphate
Over expression of FGFR-23 leads to 1) reduced phosphate reabsorption 2) reduced calcitriol production

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16
Q

Hypophosphatasia

A

AR - TNSALP (tissue non-specific isoenzyme of ALP)
Urinary phosphoetholamide also diagnostic

17
Q

CD31/34

A

Angiosarcoma
- Also polyvinyl chloride exposure
Haemangiomas

18
Q

CD20/45

A

Bone lymphoma

19
Q

CD138

A

Myeloma

20
Q

Larsens

A

AD (Filamin 3 mutant)
AR (carbohydrate sulfotransferase 3 deficiency)
Joint dislocations - hip, radial head, shoulder
Cervical hypoplasia - kyphosis and myelopathy
Flattened nasal bridge and hypertelorism

21
Q

Club foot gene

A

PITX1

22
Q

Nail Patella syndrome

A

LIM homeobox transcription factor 1 beta

Small/absent/dislocated patella
Dysplatic nails
Ileac horns
Elbow deformity

23
Q

Fascioscapulohumeral muscular dystrophy

A

Ch 4 D4Z4 deletion leading to lack of Double homeobox 4 (DUX4) suppression
Type 1 - Ch4 associated
Type 2 - Ch4 not associated
Infantile

Winging
Can’t whistle
Can’t close eyes fully
Face, scapula and shoulder weakness
Scapulothoracic fusion to be considered

24
Q

Stone man syndrome

A

Activin receptor type 1 mutant (ACVR1)
Fibrous dysplasia ossificans progressiva

HO+ monophalangeal hallux Valgus bilaterally

25
Q

Marfans
Ehler-Danlos

A

Marfans - Fibrillin
Ehler-Danlos - COL5A1

26
Q

Holt Oram

A

AD, Ch5, TBX5

27
Q

Myxoid liposarcoma

A

12;16
CHOP-TLS fusion

28
Q

Myxoid Chondrosarcoma

A

9;22
EWS-CHN

29
Q

Ewings

A

11;22
EWS-FLI1
CD99

30
Q

Synovial sarcoma

A

SYT-SSX1
X18
Vimentin, epithelial antigen

31
Q

Alveolar rhabdomyosarcoma

A

T2;13
PAK3-FKHR
Desmin and Myogenin (MyoD1)

32
Q

Dermatofibrosarcoma

A

CD34

33
Q

Congenital vertical talus

A

HOXD10
50% associated with neuromuscular disease of chromosomal issues (all of the usual neurospastic disorders - CP, arthrogryposis, myelomeningocele, SMA, diastematomyelia)

34
Q

Spinal muscular atrophy

A

AR Survival motor neuron gene
Reduced SMN-1 protein
Loss of anterior horn cells
Legs>arms. Proximal > distal

T1 - <6M. Tongue fasciculations and loss of deep tendon reflexes. Die by 2
T2 6-12M. May present as above. Sit but not stand. Near normal life expectancy.
T3 2-12Y. Usually ambulant but may lose this. Near normal life expectancy.

35
Q

Eostrogen receptor beta

A

Desmoid tumor
Seen in FAP (AD, APC gene)

36
Q

Tumoral calcinosis

A

Hyperphosphatemia
FGF-23

37
Q

LAMe CDs

A

CD20/45 - Lymphoma
CD31/34 = Angiosarcoma
CD138 = Myeloma

38
Q

Lesch-Nyhan

A

HRPT (hypoxanthine-guanine phosphoribosyl transferase) deficiency
XR
Leads to elevated serum Uric acid - reduced purine metabolism
Mental delay, self mutilation (pain insensate), choreoathetoid movement
Also DDH and scoli

Genes / Proteins (1 decks)

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