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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
Peroxisomal Disorders
Zellweger/Refsum disease (AR; 13 known PEX genes associated) | XL-Adrenoleukodystrophy (XL; ABCD1)
26
Pheochromocytomas
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
Pneumothorax and Lung Blebs
Marfan Syndrome (AD; FBN1) Birt Hogg Dube (AD; FLCN) vEDS (AD; COL3A1) Tuberous Sclerosis (due to LAM; AD; TSC1/TSC2)
28
Rhabdomyosarcoma
``` BWS (AD; 11p15 imprinting disorder; CDJN1C) Tuberous Sclerosis (rhabdomyoma; AD; TSC1/TSC2) Neurofibromatosis Type 1 (AD; NF1) Costello Syndrome (AD; HRAS) ```
29
Thyroid Cancer
FAP (AD; APC) MEN2A/B (Medullary; AD; RET) Cowden (Follicular; AD; PTEN)
30
Wilms Tumor
Wilms Tumor Anaridia Genital anomalies Retardation/WAGR (AD; PAX6) BWS (AD; 11p15 imprinting disorder; CDJN1C) Li Fraumeni (AD; TP53) Denys-Drash (AD; WT1)
31
Tetralogy of Fallot
DiGeorge (AD; 22q11.2 deletion) Alagille (+peripheral artery disease; AD; JAG1, NOTCH2) CHARGE (AD; CHD7) VACTRL/VATER (VSD, PDA; inheritance not known)
32
Renal Findings (NON-Cancerous)
``` 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
Cardiac Defects
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
Eye anomalies (Aniridia)
WAGR
35
Cataracts
NF2 Trisomy 21 Myotonic Dystrophy Cockayne Syndrome
36
Cherry Red Spot
Tay-Sachs | Neimann Pick
37
CHRPE
FAP
38
Coloboma
CHARGE
39
Cone-Rod Dystrophy
Bardet-Biedl
40
Corneal Clouding
MPS (NOT type II)
41
Heterochromic Irides
Wardenburg
42
Kayser-Fleischer
Wilson
43
Lisch Nodules
NF1 | Legius Syndrome
44
Medullated corneal nerve fibers
MEN2B
45
Nystagmus
Hermansky-Pudlak Cornelia de Lange Cobalamin C deficiency Oculocutaneous Albinism
46
Optic Glioma
NF1
47
Pigmentary retinopathy
Joubert | Cockayne
48
Posterior embryotoxon
Algille
49
Retinitis pigmentosa
Usher
50
AR Cancers
``` Xeroderma Pigmentosa Ataxia Telangiectasia Fanconi Anemia Bloom Syndrome MMR deficiency MUTYH ```
51
Trinucleotide Repeat Disorders
Huntington Disease (CAG; paternal expansion) Fragile X Syndrome (CGG; maternal expansion) Freidreich's Ataxia (GAA) Myotonic Dystrophy (CTG)
52
Chromosomal Breakage Disorders
Xeroderma pigmentosa Ataxia telangiectasia Fanconi anemia Bloom syndrome
53
Hyperammonemia
``` 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
Renal Cell Carcinomas (RCC)
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
Renal Cancer
Von Hippel Lindau Hereditary Leiomyomatosis and Renal Cell Carcinoma Birt-Hogg-Dube
56
Smells
Maple Syrup (urine)- Maple Syrup Urine Disease Mousey/Musty- Phenylketonuria (PKU) Fishy- Trimethylaminuria Feet- Isovaleric Acidemia
57
X-Linked Biochemical Disorders
``` OTC Fabry Hunter X-linked Adrenoleukodystrophy Lesch-Nyhan Barth Menkes ```
58
Pediatric Cancers
``` 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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