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ABGC Boards Review > Common Features > Flashcards

Common Features Flashcards

1
Q

2/3 Syndactyly

A

Finger- Saethre-Chotzen Syndrome (AD; TWIST1 or FGFR2)

Toe- Smith Lemli Opitz (AR; DHCR7)

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2
Q

3/4 Syndactyly

A

triploidy

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3
Q

Absent Tendon Reflexes

A

Hereditary Neuropathy with Liability to Pressure Palsies (AD; PMP22)
Friedrich ataxia (AR; FXN)
Charcot Marie Tooth (many genes; all inheritance patterns)
SMA (AR; SMN1/2)

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4
Q

Agenesis of the Corpus Callosum

A 
Fryns Syndrome (AR; PIGN)
Opitz-Kaveggia Syndrome (XLR; MED12)
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5
Q

Blindness

A

Bardet-Biedl syndrome (multiple genes; all inheritance patterns)
McCune Albright Syndrome (GNAS; somatic/mosaic)
Usher (multiple genes; AR)
RB1 and other conditions associated with retinoblastoma
Leber Hereditary Optic Neuropathy (mito- MTND4 OR XL- PRICKLE3)
Leber congenital amaurosis (multiple genes; mostly AR, some AD)

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6
Q

Cafe-Au-Lait macules

A

MEN1
NF1
NF2 (few)
Constitutional MMR Deficiency (homozygous)
McCune Albright syndrome (produces LARGE ones; somatic; GNAS)
Fanconi Anemia

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7
Q

Facial Angiofibromas

A 
MEN1
Tuberous Sclerosis (TSC1/TSC2; AD)
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8
Q

Calcification of the Falx

A

Gorlin Syndrome/Nevoid Basal Cell Carcinoma (most often AD; PTCH1/PTCH2/SUFU)

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9
Q

Cryptorchidism

A

Noonan (AD; RAS pathway genes)
Aarskog-Scott Syndrome (XLR, sometimes AR/AD; FGD1)
Rubenstein-Taybi Syndrome (AD; CREBBP or EP300)
X-Linked Adrenal Hypoplasia Congenita (XL; NR0B1 or non-recurrent Xp21 del)
Kallmann Syndrome (XLR or AD; multiple genes)

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10
Q

Diaphragmatic Hernia

A 
Fryns Syndrome (AR; PIGN)
BWS (AD; 11p15 imprinting disorder/CDJN1C)
Cornelia de Lange (AD or XL; multiple genes)
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11
Q

Ectopia Lentis

A

Down- Homocystinuria ( AR; CBS)

Up- Marfan Syndrome (AD; FBN1)

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12
Q

Pierre Robin Sequence

A

Stickler Syndrome (AD or AR; multiple COL genes)
Trisomy 18
22q11.2 Deletion

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13
Q

Dorsal Root Ganglia Deterioration

A

Friedrich’s Ataxia (AR; FXN)

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14
Q

Endometrial Cancers

A

Cowden (AD; PTEN)

Lynch (AD; MLH1, MSH2, MSH6, PMS2)

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15
Q

Enlarged Vestibular Aqueduct

A

Pendred Syndrome (AR; SLC26A4)

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16
Q

Hamartoma

A 
Cowden (AR; PTEN)
Juvenile Polyposis (AD; SMAD4, BMPR1A)
Peutz-Jegher (AD; STK11)
Tuberous Sclerosis (AD; TSC1/TSC2)
Neurofibromatosis Type 1 (iris; AD; NF1)
Pallister Hall (Hypothalamic; AD; GLI3)
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17
Q

Medulloblastoma

A

FAP (AD; APC)
Gorlin Syndrome/ Nevoid Basal Cell Carcinoma (AD; PTCH1, SUFU)
Li Fraumeni Syndrome (AD; TP53)
Rubinsten-Taybi Syndrome (AD; CREBBP or EP300)

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18
Q

Hearing Loss (Syndromic)

A

Alport Syndrome (SN; XL; COL4A5, COL4A3, COL4A4)
Biotinidase Deficiency (SN; AR; BTD)
Branchiootorenal (SN/Conductive/Mixed; AD; EYA1, SIX1, SIX5)
Charcot-Marie-Tooth (+/-SN; many genes; all inheritance patterns)
CHARGE (SN/mixed deafness; AD; CHD7)
Fanconi Anemia (+/- Conductive; AR; many genes)
Jervell and Lange Nielsen/Long QT (SN; AR; KCNQ1, KCNE1)
Monosomy 1p36
NF2 (SN; AD; NF2)
Pendred Syndrome (SN; AR; SLC26A4)
Refsum Disease (SN; AR; PHYH, PEX7)
Rubinstein-Taybi (SN/Conductive; AD; CREBBP or EP300)
Smith Magenis (Conductive; AD; RAI1/17p11.2 deletion)
Stickler Syndrome (Conductive/SN; AR; COL genes)
Trisomy 21 (Conductive)
Usher Syndrome (SN; AR; multiple types with multiple genes per type)
Waardenburg Syndrome (SN; AD; PAX3, MITF, EDNRB, EDN3, SOX10)

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19
Q

Calcium differences

A

Hypercalcemia- Williams/Williams Beuren Syndrome (7q11.23) OR MEN1 (indicates presence of parathyroid tumor)
Hypocalcemia- DiGeorge (22q11.2 deletion) *causes seizures

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20
Q

Liver Transplant (as a cure)

A

Alpha-1-Antitrypsin Deficiency (AR; SERPINA1)
Tyrosinemia Type I (AR; FAH)
Wilson Disease (AR; ATP7B)
Some Urea Cycle Disorders- OTC (XL; OTC); Citrullinemia Type I (AR; ASS1); Argininosuccinate Lyase Deficiency (AR; ASL)
Arginase Deficiency (AR; ARG1)
Citrin Deficiency (AR; SLC25A13)

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21
Q

Prolonged QT

A 
Long QT Syndrome (multiple genes; most AD except Jervell and Lang Nielsen which is AR)
Rett Syndrome (XL; MECP2)
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22
Q

Pulmonary Valve/Pulmonic Stenosis

A 
Cornelia de Lange (AD/XL)
Noonan (AD)
Watson Syndrome (AD; a NF1 variant)
Noonan Syndrome with Multiple Lentigines/LEOPARD (AD; PTPN11, RAF1, BRAF, MAP2K1)
Williams Syndrome (7q11.23 deletion)
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23
Q

Marfanoid Habitus

A 
Beals Syndrome/Congenital Contractural Arachnodactyly (AD; FBN2)
Marfan Syndrome (AD; FBN1)
Multiple Endocrine Neoplasia Type 2B (AD; RET)
Classic Homocystenuria (AR; CBS)
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24
Q

Nerve Sheath Tumors

A

Familial Atypical Multiple Mole Melanoma (AD; CDKN2A)
NF1 (peripheral; AD; NF1)
Schwannomatosis (AD; SMARCB1, LZTR1)
NF2 (controversial)

25
Q

Peroxisomal Disorders

A

Zellweger/Refsum disease (AR; 13 known PEX genes associated)

XL-Adrenoleukodystrophy (XL; ABCD1)

26
Q

Pheochromocytomas

A

MEN2A/B (AD; RET)
Hereditary Paragangliomas/Pheochromocytomas (AD; SDHA, SDHB, SDHC, SDHD)
Von Hippel Lindau (AD; VHL)
NF1 (AD; NF1)
MEN1 (Rarely; AD MEN1)
MAX Associated Susceptibility to Pheos (bilateral; AD; MAX)
TMEM127 Associated Susceptibility to Pheos (AD; TMEM127)
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (rarely; AD; FH)

27
Q

Pneumothorax and Lung Blebs

A

Marfan Syndrome (AD; FBN1)
Birt Hogg Dube (AD; FLCN)
vEDS (AD; COL3A1)
Tuberous Sclerosis (due to LAM; AD; TSC1/TSC2)

28
Q

Rhabdomyosarcoma

A 
BWS (AD; 11p15 imprinting disorder; CDJN1C)
Tuberous Sclerosis (rhabdomyoma; AD; TSC1/TSC2)
Neurofibromatosis Type 1 (AD; NF1)
Costello Syndrome (AD; HRAS)
29
Q

Thyroid Cancer

A

FAP (AD; APC)
MEN2A/B (Medullary; AD; RET)
Cowden (Follicular; AD; PTEN)

30
Q

Wilms Tumor

A

Wilms Tumor Anaridia Genital anomalies Retardation/WAGR (AD; PAX6)
BWS (AD; 11p15 imprinting disorder; CDJN1C)
Li Fraumeni (AD; TP53)
Denys-Drash (AD; WT1)

31
Q

Tetralogy of Fallot

A

DiGeorge (AD; 22q11.2 deletion)
Alagille (+peripheral artery disease; AD; JAG1, NOTCH2)
CHARGE (AD; CHD7)
VACTRL/VATER (VSD, PDA; inheritance not known)

32
Q

Renal Findings (NON-Cancerous)

A 
Renal Cysts-
Meckel-Gruber (AR, multiple genes)
AD Polycystic Kidney Disease (AD; PKD1, PKD2, GANAB, DNAJB11)
Renal Agenesis-
Branchiootorenal (AD; EYA1, SIX1, SIX5)
Renal Failure-
AR Polycystic Kidney Disease (AR; PKHD1)
33
Q

Cardiac Defects

A

Cornelia de Lange (AD or XL; multiple genes)
Trisomy 18 (ASD/VSD)
Autosomal Dominant Polycystic Kidney Disease (atrial root dilation/mitral valve prolapse; AD; PKD1, PKD2, GANAB, DNAJB11)
Holt Oram (AD; TBX5)
VATER (VSD, PDA; inheritance not known)
Beals/Congenital Contractural Arachnodactyly (interrupted aortic arch, ASD/VSD, dilated aortic root; AD; FBN2)
Triploidy
Wolf-Hirschhorn (ASD/VSD; 4p16.3 deletion)
Noonan Syndrome (AD; RAS pathway genes)

34
Q

Eye anomalies (Aniridia)

A

WAGR

35
Q

Cataracts

A

NF2
Trisomy 21
Myotonic Dystrophy
Cockayne Syndrome

36
Q

Cherry Red Spot

A

Tay-Sachs

Neimann Pick

37
Q

CHRPE

A

FAP

38
Q

Coloboma

A

CHARGE

39
Q

Cone-Rod Dystrophy

A

Bardet-Biedl

40
Q

Corneal Clouding

A

MPS (NOT type II)

41
Q

Heterochromic Irides

A

Wardenburg

42
Q

Kayser-Fleischer

A

Wilson

43
Q

Lisch Nodules

A

NF1

Legius Syndrome

44
Q

Medullated corneal nerve fibers

A

MEN2B

45
Q

Nystagmus

A

Hermansky-Pudlak
Cornelia de Lange
Cobalamin C deficiency
Oculocutaneous Albinism

46
Q

Optic Glioma

A

NF1

47
Q

Pigmentary retinopathy

A

Joubert

Cockayne

48
Q

Posterior embryotoxon

A

Algille

49
Q

Retinitis pigmentosa

A

Usher

50
Q

AR Cancers

A 
Xeroderma Pigmentosa
Ataxia Telangiectasia
Fanconi Anemia
Bloom Syndrome
MMR deficiency
MUTYH
51
Q

Trinucleotide Repeat Disorders

A

Huntington Disease (CAG; paternal expansion)
Fragile X Syndrome (CGG; maternal expansion)
Freidreich’s Ataxia (GAA)
Myotonic Dystrophy (CTG)

52
Q

Chromosomal Breakage Disorders

A

Xeroderma pigmentosa
Ataxia telangiectasia
Fanconi anemia
Bloom syndrome

53
Q

Hyperammonemia

A 
Propionic acidemia (AR; PCCA, PCCB)
Isolated Methylmalonic acidemia (AR; MUT, MMAA, MMAB, and others)
Isovaleric acidemia (AR; IVD)
Carbonic anhydrase VA deficiency (AR; CA5A)
OTC Deficiency (XL; OTC)
54
Q

Renal Cell Carcinomas (RCC)

A

Birt Hogg Dube (clear cell/chromophobe/onocytoma/collecting duct; AD; FLNC)
Von Hipple Lindau (clear cell; AD; VHL)
Hereditary Leiomyomatosis RCC Syndrome (papillary; AD; FH)
Hereditary Papillary Renal Cell Carcinoma Syndrome (papillary; AD; MET)
Cowden Syndrome (clear cell; AD; PTEN)

55
Q

Renal Cancer

A

Von Hippel Lindau
Hereditary Leiomyomatosis and Renal Cell Carcinoma
Birt-Hogg-Dube

56
Q

Smells

A

Maple Syrup (urine)- Maple Syrup Urine Disease
Mousey/Musty- Phenylketonuria (PKU)
Fishy- Trimethylaminuria
Feet- Isovaleric Acidemia

57
Q

X-Linked Biochemical Disorders

A 
OTC
Fabry
Hunter
X-linked Adrenoleukodystrophy
Lesch-Nyhan
Barth
Menkes
58
Q

Pediatric Cancers

A 
DICER1 Syndrome/Familial Leonor pulmonary Blastoma (14q32.13)
Li Fraumeni (TP53)
Retinoblastoma (RB1)
Familial Wilma Tumor (WT1)
Bloom Syndrome (BLM)
Fanconi Anemia (many FANC genes)
Shawchman Diamond Syndrome (SDS)

ABGC Boards Review (14 decks)

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