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ABOS Part 1 Neel > Congenital Syndromes > Flashcards

Congenital Syndromes Flashcards

1
Q

Achondroplasia

A

rhizomelic dwarfism (short humerus and femurs), but NORMAL TRUNK, trident hands (like spock, ring and index fingers diverge). Congenital spinal stenosis. Lumbar hyperlordosis. Normal size head (prominent foreheads) and intelligence.

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2
Q

Achondroplasia Genetics

A

Auto DOMINANT FGFR-3 mutation–>gain of function that retards chondrocyte growth in proliferative zone of growth plate

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3
Q

Aperts Syndrome

A

syndromic face w/ complex bilateral syndactyly (phalanges have bony fusion)but normal digit length. Low IQ.

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4
Q

Aperts Syndrome Genetics

A 
Auto DOMINANT (but most cases sporadic)
FGFR-2 mutation
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5
Q

Léri-Weill dyschondrosteosis

A

Type of mesomelic dwarfism w/ short stature and bilateral madelungs deformity.

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6
Q

Léri-Weill dyschondrosteosis Genetics

A

X linked DOMINANT mutation in SHOX gene on X or Y chromosome

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7
Q

Cleidocranial dysplasia

A

Short stature Cranial anomalies (synostosis, Wormian intrasutural skull bones ,bossing) and absent clavicles. High rate of coxa vara. Secondary to defect in osteoblastic differentiation–>defective intramembranous ossification.

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8
Q

Cleidocranial dysplasia Genetics

A

Auto DOMINANT CBFA-1/RUNX2 gene mutation

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9
Q

Pseudoachondroplasia

A

Normal development until 2 years old. Short limb normal trunk dwarfism resembling achondroplasia. Very lax w/ AA instability and lumbar hyper lordosis

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10
Q

Pseudoachondroplasia Genetics

A

Auto DOMINANT COMP gene mutation (cartilage matrix protein aka thrombospondin 5)

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11
Q

Diastrophic dysplasia

A

Congenital dwarfism with VERY short limbs. Cauliflower ears, Hitchhiker’s Thumb (thumbs severely abducted). Spine issues (Scoliosis, severe cervical kyphosis) issues and clubfoot common.

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12
Q

Diastrophic dysplasia Genetics

A

DTDST gene mutation (sulfate transporter protein responsible for supplying SO4 for keratan and chondroitin to create hydrophilicity of proteoglycans)

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13
Q

Spondyloepiphyseal dysplasia

A

Defect in ossiffication of the epiphysis due to defect in type 2 collagen. Primarily affects spine and epiphyses. Clinically presents as short trunk dwarfism w/ short limbs w/ kyphoscoliosis and lumbar hyperlordosis. Vertebra are flattened on xray, odontoid hypoplasia–>atlantoaxial instability. Prominent coxa vara and flat acetabuli lead to early OA. Normal head, hands and mentation

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14
Q

Spondyloepiphyseal dysplasia Genetics

A

Autosomal dominant (congenital form) and X linked recessive (tarda form) COL2A1 mutation

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15
Q

Campomelic dysplasia

A

Rare condition hallmarked by short and bent extremity long bones. Fatal in infancy secondary to multiorgan sysem failure

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16
Q

Campomelic dysplasia Genetics

A

Sox 9 mutation–>abberant chondrocyte differentiation

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17
Q

Fascioscapulohumeral dysplasia

A

Progressive bilateral shoulder and facial muscle weakness –> b/l scapular wingining and inability to whistle, transverse smile, weak limited shoulder AROM

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18
Q

Fascioscapulohumeral dysplasia Genetics

A

Auto DOMINANT chromosome 4 deletion–>HYPOmethylation of DUX4 gene–> OVERexpression (gain of function mutation)

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19
Q

NF-1

A

dystrophic scoli, cafe au lait spots, iris hamartomas (lisch), skin neurofibromas (increased risk of MPNST), dural ectasia, anteroLATERAL bowing of tibia w/ or w/o pseudoarthrosis.

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20
Q

NF-1 Genetics

A

Auto DOMINANT mutation in tumor supressor gene neurofibromin (which normally supresses Ras)

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21
Q

Jaffe-Campanacci

A

Multiple NOFs of the long bones, mandibular giant cell lesions, café-au-lait macules without evidence of neurofibromas

22
Q

Jaffe-Campanacci Genetics

A

NF1 mutation causing disorder in the gene product neurofibromin

23
Q

McCune-Albright

A

Fibrous dysplasia of bone, café-au-lait spots, precocious puberty

24
Q

McCune-Albright Genetics

A

GNAS gene mutation –> encodes cAMP protein, Gs alpha

25
Q

PraDer Willi

A

Obese child with INSATIABLE appetite, mild mental retardation, hypotonia, scoliosis

26
Q

PraDer Willi Genetics

A

Paternal Deletion on chrom 15 (maternal copy is inherited but is silenced via methylation, ie epigenetics)

27
Q

Fibrodysplasia ossificans progressiva (stone man syndrome)

A

Very rare. See profound HO after minor trauma (whole muscles can turn to bone), even immunizations. Congenital hallux valgus is pathognomonic.

28
Q

Fibrodysplasia ossificans progressiva (stone man syndrome)

A

Gain of function mutation is BMP receptor (ACVR1; activin A1)–> increased BMP4 action

29
Q

Pyknodysostosis

A

Short stature. Bright sclerotic bones on x ray w/ numerous fractures from brittle bones. Wormian bones. Distal phalnax hypoplasia (spoon fingers).

30
Q

Pyknodysostosis Genetics

A

AUTO RECESSIVE, cathepsin K mutation

31
Q

Osteopetrosis

A

Disease of osteoclast deficiency. Two main types: osteoclast rich (have normal cell quantity but acidification is defective) and osteoclast poor (very low osteoclast numbers) the former is FAR more common. Onset is early childhood (fatal auto recessive form) or as an adult (benign auto dominant and MOST COMMON form).

X rays show very dense bright bones with thick cortices and block like metaphyses. Long bone fractures common. Cranial nerve palsies. Osteomyelitis (reduced marrow vascularity), and hepatosplenomegaly (extramedullary hematopoiesis).

32
Q

Osteopetrosis Genetics

A

Proton pump mutation (most common) Chloride channel mutation (2nd most common), carbonic anhydrase mutation (<5% cases). RANK receptor mutation responsible for very rare osteoclast poor form.

33
Q

Multiple epiphyseal dysplasia

A

Multiple joints (both sides) and symmetric involvement. General short stature with normal mentation, head, motor function. There is no spinal involvement. Classic radiographic finding is a “double layered patella on the lateral knee x-ray.

34
Q

Multiple epiphyseal dysplasia Genetics

A

COMP (most common cause), MATN (matrillin), COL9

35
Q

Kniest dysplasia

A

Many similarities with SED including SHORT TRUNK dwarfism. What sets it apart is dumbell shaped femurs on x ray.

36
Q

Kniest dysplasia Genetics

A

COL2A1

37
Q

Ehlers danlos

A

Numerous subtypes. Hyperlaxity (may see recurvatum, patella dislocations) with easy bruising and bleeding

38
Q

Ehlers danlos Genetics

A

COL1, 3, 5 (“Ehlers is ODD”)

39
Q

Osteogenesis imperfecta

A

Typified by numerous fractures, long bone bowing (“saber tibia”), shorter stature, basiler invagination, blue sclera (types 1 and 2), olecronon avulsion fractures (pathognemonic esp bilateral). Can also see hearing loss, and dental issues common (brownish teeth and cavities), wormian bones.

40
Q

Osteogenesis imperfecta Genetics

A

COL1A1 or COL1A2 mutations (numerous described) that cause a substitution for glycine amino acid in procollagen precenting normal collagen triple helix formation.

Type 1: Auto dominant. Mildest form. Presents at preschool age.
Type 2: Auto recessive. Most severe; fatal shortly after birth.
Type 3: Auto recessive. Severe but surviveable. Fractures at birth.
Type 4: Auto dominant. Moderate.

41
Q

Mucopolysaccharidoses (MPS)

A

4 main tested types. All have PROPORTIONATE dwarfism and the accumulation of sugar sulfates 2/2 enzyme mutations that can be tested in urine. All autorecessive (except hunters)

Hurlers: most severe. Gargoyle facies, die 1st decade. Mental retardation, carpal tunnel syndrome.

Hunters: X linked, carpal tunnel syndrome, clear cornea (only one), mental retardation. Die as young adults.

San filipo: Normal until 2 years. See mental retardation and numerous psych issues including hyperactivity (“San filipo flips out”).

Morquio: MOST COMMON. Normal intelligence. Odontoid hypoplasia with AA instability.

42
Q

Friedrich’s ataxia

A

Progressive degenerative disorder affecting cerebellum and posterior horns of the spinal cord. Wide based shuffling (eventually ataxic) gait, long sweeping scoliosis. Cavus feet. Cardiomyopathy–> mortality in the 50s.

43
Q

Friedrich’s ataxia Genetics

A

AUTO RECESSIVE. Trinucleotide repeat in DNA (GAA sequence). “Frataxin gene”

44
Q

Congenital Vertical Talus (CVT)

A

Rocker bottom feet. Excessive dorsiflexion. Talus is vertical and perpendicular to calcaneus and first ray. Navicular does NOT reduce on plantarflexion radiograph.

45
Q

Calcaneovalgus foot

A

Foot is excessively dorsiflexed. Can see posteromedial tibial bowing. At first glance can resemble CVT but do NOT have rockerbottom feet. X rays show normal bony relationships.

46
Q

Klippel-Feil

A

Limited cervical spine ROM. Commonly also see low posterior hair line and Sprengels deformity (hypoplastic elevated unilateral scapula with limited ABduction), and early onset scoliosis. Associated cardiac and renal anomalies common.

47
Q

Larsen Syndrome

A

Wide set eyes and cleft palate. Numerous joint dislocations. Numerous spinal issues of which cervical kyphosis is most important. Accessory calcaneal ossification center.

48
Q

Larsen Syndrome Genetics

A

Auto Dominant - Filamin B mutation

Auto Recessive - carbohydrate sulfotransferase 3 deficiency

49
Q

Metaphyseal chondrodysplasia

A

looks similar to rickets with short stature, widened physes and long bone bowing. However will have abnormal metaphysesis with NORMAL epiphyses. Milder type (Schmid) and much more severe type with super fucked up looking metaphyses.

50
Q

Marfans

A

tall and skinny with arachnodactyly, pectus excavatum, superior lens dislocations, hyperlaxity, and scoliosis super common. Cardiac issues like mitral valve prolapse and aortic dilatation is common

51
Q

Gaucher’s disease

A

Lipid storage disease. Presents with cortical thinning, pathologic fractures, bone infarcts/AVN, osteopenia and “Erlenmeyer flask” appearance of distal femurs.

52
Q

Gaucher’s disease Genetics

A

glucocerebrosidase deficiency

ABOS Part 1 Neel (2 decks)

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