Common Features Flashcards
2/3 Syndactyly
Finger- Saethre-Chotzen Syndrome (AD; TWIST1 or FGFR2)
Toe- Smith Lemli Opitz (AR; DHCR7)
3/4 Syndactyly
triploidy
Absent Tendon Reflexes
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)
Agenesis of the Corpus Callosum
Fryns Syndrome (AR; PIGN) Opitz-Kaveggia Syndrome (XLR; MED12)
Blindness
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)
Cafe-Au-Lait macules
MEN1
NF1
NF2 (few)
Constitutional MMR Deficiency (homozygous)
McCune Albright syndrome (produces LARGE ones; somatic; GNAS)
Fanconi Anemia
Facial Angiofibromas
MEN1 Tuberous Sclerosis (TSC1/TSC2; AD)
Calcification of the Falx
Gorlin Syndrome/Nevoid Basal Cell Carcinoma (most often AD; PTCH1/PTCH2/SUFU)
Cryptorchidism
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)
Diaphragmatic Hernia
Fryns Syndrome (AR; PIGN) BWS (AD; 11p15 imprinting disorder/CDJN1C) Cornelia de Lange (AD or XL; multiple genes)
Ectopia Lentis
Down- Homocystinuria ( AR; CBS)
Up- Marfan Syndrome (AD; FBN1)
Pierre Robin Sequence
Stickler Syndrome (AD or AR; multiple COL genes)
Trisomy 18
22q11.2 Deletion
Dorsal Root Ganglia Deterioration
Friedrich’s Ataxia (AR; FXN)
Endometrial Cancers
Cowden (AD; PTEN)
Lynch (AD; MLH1, MSH2, MSH6, PMS2)
Enlarged Vestibular Aqueduct
Pendred Syndrome (AR; SLC26A4)
Hamartoma
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)
Medulloblastoma
FAP (AD; APC)
Gorlin Syndrome/ Nevoid Basal Cell Carcinoma (AD; PTCH1, SUFU)
Li Fraumeni Syndrome (AD; TP53)
Rubinsten-Taybi Syndrome (AD; CREBBP or EP300)
Hearing Loss (Syndromic)
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)
Calcium differences
Hypercalcemia- Williams/Williams Beuren Syndrome (7q11.23) OR MEN1 (indicates presence of parathyroid tumor)
Hypocalcemia- DiGeorge (22q11.2 deletion) *causes seizures
Liver Transplant (as a cure)
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)
Prolonged QT
Long QT Syndrome (multiple genes; most AD except Jervell and Lang Nielsen which is AR) Rett Syndrome (XL; MECP2)
Pulmonary Valve/Pulmonic Stenosis
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)
Marfanoid Habitus
Beals Syndrome/Congenital Contractural Arachnodactyly (AD; FBN2) Marfan Syndrome (AD; FBN1) Multiple Endocrine Neoplasia Type 2B (AD; RET) Classic Homocystenuria (AR; CBS)
Nerve Sheath Tumors
Familial Atypical Multiple Mole Melanoma (AD; CDKN2A)
NF1 (peripheral; AD; NF1)
Schwannomatosis (AD; SMARCB1, LZTR1)
NF2 (controversial)
Peroxisomal Disorders
Zellweger/Refsum disease (AR; 13 known PEX genes associated)
XL-Adrenoleukodystrophy (XL; ABCD1)
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)
Pneumothorax and Lung Blebs
Marfan Syndrome (AD; FBN1)
Birt Hogg Dube (AD; FLCN)
vEDS (AD; COL3A1)
Tuberous Sclerosis (due to LAM; AD; TSC1/TSC2)
Rhabdomyosarcoma
BWS (AD; 11p15 imprinting disorder; CDJN1C) Tuberous Sclerosis (rhabdomyoma; AD; TSC1/TSC2) Neurofibromatosis Type 1 (AD; NF1) Costello Syndrome (AD; HRAS)
Thyroid Cancer
FAP (AD; APC)
MEN2A/B (Medullary; AD; RET)
Cowden (Follicular; AD; PTEN)
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)
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)
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)
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)
Eye anomalies (Aniridia)
WAGR
Cataracts
NF2
Trisomy 21
Myotonic Dystrophy
Cockayne Syndrome
Cherry Red Spot
Tay-Sachs
Neimann Pick
CHRPE
FAP
Coloboma
CHARGE
Cone-Rod Dystrophy
Bardet-Biedl
Corneal Clouding
MPS (NOT type II)
Heterochromic Irides
Wardenburg
Kayser-Fleischer
Wilson
Lisch Nodules
NF1
Legius Syndrome
Medullated corneal nerve fibers
MEN2B
Nystagmus
Hermansky-Pudlak
Cornelia de Lange
Cobalamin C deficiency
Oculocutaneous Albinism
Optic Glioma
NF1
Pigmentary retinopathy
Joubert
Cockayne
Posterior embryotoxon
Algille
Retinitis pigmentosa
Usher
AR Cancers
Xeroderma Pigmentosa Ataxia Telangiectasia Fanconi Anemia Bloom Syndrome MMR deficiency MUTYH
Trinucleotide Repeat Disorders
Huntington Disease (CAG; paternal expansion)
Fragile X Syndrome (CGG; maternal expansion)
Freidreich’s Ataxia (GAA)
Myotonic Dystrophy (CTG)
Chromosomal Breakage Disorders
Xeroderma pigmentosa
Ataxia telangiectasia
Fanconi anemia
Bloom syndrome
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)
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)
Renal Cancer
Von Hippel Lindau
Hereditary Leiomyomatosis and Renal Cell Carcinoma
Birt-Hogg-Dube
Smells
Maple Syrup (urine)- Maple Syrup Urine Disease
Mousey/Musty- Phenylketonuria (PKU)
Fishy- Trimethylaminuria
Feet- Isovaleric Acidemia
X-Linked Biochemical Disorders
OTC Fabry Hunter X-linked Adrenoleukodystrophy Lesch-Nyhan Barth Menkes
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)
