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Pediatric Syndromes Flashcards

1
Q

22q11.2 Deletion syndrome

A
  • hypocalcemia
  • conotruncal defects, TOF (74%)
  • velopharyngeal insufficiency (nasal voice)
  • immunodeficiency
  • thyroid function issues
  • schizophrenia risk
  • AD, but 93% de novo
  • TBX1 responsible for phenotype
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2
Q

Alagille syndrome

A
  • JAG1, NOTCH2
  • AD, 50-70% de novo
  • liver damage d/t bile duct paucity
  • cardiac defects (TOF)
  • butterfly shaped vertebrae
  • ocular finding: posterior embryotoxon
  • inverted triangle facies, deep set eyes, bulbous nasal tip, prom. forehead
  • variable expressivity
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3
Q

Brugada syndrome

A
  • SCN5A
  • AD
  • ventricular arrythmia
  • nocturnal issues (seizures, difficulty breathing, death)
  • aka Sudden unexplained nocturnal death syndrome
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4
Q

Cardio-Facio-Cutaneous syndrome

A
  • BRAF, MEK1, MEK2, KRAS
  • AD, majority de novo
  • heart: ASD, pulmonic stenosis
  • Face: coarse, bitemporal narrowing
  • skin: dry, rough skin, wrinkled palms and soles, sparse/absent eyelashes and eyebrows
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5
Q

Costello syndrome

A
  • HRAS (activating mutations, known oncogene, ras-opathy)
  • AD, majority de novo
  • HCM, arrythmia
  • loose skin
  • increased risk of tumors: rhabdomyosarcoma, papillomas
  • feeding issues
  • sparse, fine hair
  • hypotonia, joint laxity
  • difficult to distinguish from Noonan and/or CFC (KRAS) in infancy
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6
Q

HHT

A
  • ACVRL1, ENG, SMAD4, GDF2
  • AD
  • nosebleeds, telangiectases
  • AV malformations
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7
Q

Holt-Oram syndrome

A
  • TBX5 (mostly), SALL4
  • AD, 85% de novo
  • hand: carpal bone abnormality
  • heart: multiple ASD/VSD, arrhythmia
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8
Q

LEOPARD

A
  • PTPN11 (LOSS OF FXN), RAF1
  • AD
  • Lentigines (freckles)
  • ECG conduction abnormalities
  • Ocular hypertelorism
  • Pulmonary stenosis
  • Abnormalities of genitalia
  • Retardation of growth
  • Deafness (sensorineural)
  • HCM
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9
Q

Noonan syndrome

A
  • GAIN OF FXN PTPN11, SOS1, KRAS, RAF1, NRAS, CBL, SHOC2, BRAF, RIT1, SOS2
  • AD
  • “male Turner”, webbed neck
  • coarse facies
  • short stature
  • pulmonary valve stenosis, HCM
  • low set nipples
  • bleeding problems
  • skeletal malformations (scoliosis)
  • normal intelligence
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10
Q

Williams syndrome

A
  • ELN
  • Ad, majority de novo
  • SVAS
  • “elfin” facies (short nose with broad tip, full cheeks, wide mouth)
  • cocktail party personality
  • hypercalcemia in infancy
  • stellate iris
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11
Q

Ataxia-Telangiectasia

A
  • ATM
  • AR (carriers at risk for cancer)
  • A+T
  • choreoathetosis
  • radiation sensitivity
  • increased risk of lymphoma and leukemia
  • immunodef
  • chromosome breakage disorder
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12
Q

Bloom syndrome

A
  • BLM
  • AR (AJ founder)
  • butterfly rash
  • immunodeficiency
  • reduced fertility
  • increased risk of cancer (colon)
  • short stature
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13
Q

Fanconi anemia

A
  • FANC_ (mostly FANCA)
  • AR
  • bone marrow failure
  • aplastic anemia
  • myelodysplastic syndrome
  • leukemia
  • radial ray abnormalities
  • short stature
  • tumors
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14
Q

Congenital Contractural Arachnodactyly (Beals syndrome)

A
  • FBN2
  • AD
  • marfanoid
  • crumpled ears
  • kyphoscholiosis
  • heart defects (rarely)
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15
Q

EDS, Classic

A
  • COL5A1, COL5A2
  • AD
  • skin hyperextensibility
  • abnormal scarring
  • velverty skin
  • disloctions/subluxations
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16
Q

EDS, hypermobility

A
  • AD
  • hypermobility
  • ABSENCE of skin/soft tissue fragility
  • dislocation/subluxation
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17
Q

EDS 4, vascular

A
  • COL3A1
  • AD
  • rupture (uterine, intestinal, arterial)
  • translucent skin
  • old people hands
  • pneumothorax
  • club foot
  • easy bruising
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18
Q

EDS, kyphoscoliotic type

A
  • PLOD1
  • AR
  • progressive scoliosis
  • marfanoid habitus
  • scars, bruising, joint laxity
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19
Q

Loeys Dietz syndrome

A
  • TGFBR1, TGFBR2, SMAD3, TGFB2
  • AD (75% de novo)
  • aneurysms/dissections
  • arterial tortuosity
  • craniofacial: hypertelorism, cleft palate, craniosynostosis
  • bifid uvula
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20
Q

Marfan syndrome

A
  • FBN1
  • AD
  • dilated aorta
  • pectus excavatum/carinatum
  • reduced upper:lower segment
  • scoliosis
  • pes planus
  • high palate
  • ectopia lentis (UP)
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21
Q

Hidrotic Ectodermal Dysplasia

A
  • GJB6
  • AD
  • malformed, small, thick nails
  • hypotrichosis (part/total alopecia)
  • palmoplantar hyperkeratosis
  • NORMAL sweating and teeth
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22
Q

Hypohidrotic Ectodermal Dysplasia

A
  • EDA (95%), EDAR, EDARADD
  • XL (95%), AD or AR (5%)
  • peeling skil and perioral hyperpigmentation at birth
  • hypotrichosis (sparse scalp and body hair)
  • hypohidrosis (inability to sweat)
  • hypodontia (5-7 conical teeth)
  • CARRIERS of XL HED show mosiac pattern of sweat pore function and some degree of hypodontia
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23
Q

Incontinentia Pigmenti

A
  • IKBKG (aka NEMO)
  • XLD (most male fetuses miscarry) 80% due to a deletion
  • Four stages of skin changes: erythema –> blister –> hyperpigmented streaks –> atrophic skin patches
  • eosinophilia (high WBCs)
  • malformed/small teeth, hair abnormalities, nail ridging/pitting
  • ID is rare and life expectancy is normal
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24
Q

Oculocutaneous Albanism

A
  • TYR (OCA1), OCA2, SLC45A2, GPR143
  • AR, XLR (for GPR143)
  • OCA1A: NO melanin syntheis - nystagmus, blue/translucent irises, foveal hypoplasia, strabismus, white hair and skin
  • OCA1B: some melanin synthesis - milder than 1A
  • OCA2: same ocular probs as OCA1 but better vision, skin and eye pigment range from minimal to near normal
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25
Q

XL Adrenal Hypoplasia Congenita

A
  • NR0B1
  • XLR
  • acute onset adrenal insufficiency (high potassium, acidosis, hypoglycemia, shock)
  • cryptorchidism, delayed puberty
  • CARRIER may have adrenal insuff. or delayed puberty/absent menstruation
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26
Q

21-Hydroxylase-Deficiency (CAH)

A
  • CYP21A2
  • AR
  • excess andogens produced
  • CLASSIC: females with ambiguous genitalia, precocious puberty/adrenarche, SALT WASTING in infancy (life-threatening)
  • NONCLASSIC: moderate enzyme deficiency, variable virilization no salt wasting
  • TEST for elevated serum 17-OHD (on NBS) or elevated testosterone or androgen precursors
  • Disease mechanism: cortisol production pathway is blocked
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27
Q

Androgen Insensitivity Syndrome

A
  • AR (androgen receptor)
  • XLR
  • XY males have female external sex characteristics d/t inability to respond to androgens
  • infertile and no female sex organs
  • sparse/absent pubic and underarm hair
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28
Q

Kallmann Syndrome

A
  • KAL1 (aka ANOS1), FGFR1
  • XLR, AD
  • delayed/absent puberty and ANOSMIA
  • hypogonadotropic hypogonadism
  • can also see: mirror hand movements, unilateral renal agenesis, CL+/-P, HL, ataxia
  • gene mutations in only 30% of all cases
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29
Q

Kleinfelter syndrome

A
  • XXY karyotype
  • shortage of testosterone
  • tall stature, delayed motor and lang skills, small testes, gynecomastia, infertility
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30
Q

McCune-Albright Syndrome

A
  • GNAS ( activating mutations)
  • ** inactivating muts cause albright hereditary osteodystrophy
  • sporadic: mosaic (not inherited)
  • bones: fibrous tissue in the bones (often unilateral), fractures, uneven growth, deformity, scoliosis
  • skin: Coast of Maine CAL macules
  • endocrine tissue: VERY precocious puberty in females (menstruation by age 2) d/t excess estrogen, hyperthyroidism, excess GH, (acromegaly), goiter
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31
Q

Transient Neontal Diabetes Mellitus

A
  • HYMAI, PLAGL1
  • UPD isodisomy ch6, pat 6p24 dup, or 6p24 methylation defect
  • DM in the first 6 wks of life, resolves by 18mos
  • Severe IUGR
  • hyperglycemia & dehydration
  • inc. risk of type II DM later in life
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32
Q

Turner syndrome

A
  • 45,X (SHOX)
  • short stature, normal intelligence, coarctation of the aorta, POF/infertility, webbed neck, low antereior hairline lymphadema (puffy hands and feet), horseshoe kidney
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33
Q

Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)

A
  • FOXL2
  • AD (50% do novo)
  • 4 major features: 1. blepharophimosis (narrowing of eye opening) 2. ptosis 3. epicanthus inversus (upward fold of kin of lower eyelid 4. telecanthus
  • can also see POF
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34
Q

Congenital Hearing Loss

A
  • GJB2 (connexin 26), GJB6 (connexin 30)
  • AR
  • congenital mild-profound SNHL
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35
Q

Hermansky-Pudlak syndrome

A
  • HPS1 (Puerto Rican founder mut), HPS3, others
  • oculocutaneous albinism
  • blood clotting issues –> easy bruising and prolonged bleeding
  • pulmonary fibrosis
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36
Q

Jervell and Lange-Nielsen syndrome

A
  • KCNQ1 (90%), KCNE1
  • AR
  • congenital severe SNHL
  • prolonged QT interval
  • risk for arrhythmia, syncope, sudden death
  • CARRIERS at risk for AD long QT syndrome (aka Romano Ward syndrome)
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37
Q

Leber Hereditary Optic Neuropathy (LHON)

A
  • MTND1, MTND4, MTND5, MTND6
  • Mitochondrial inheritance
  • blurring/colouding of vision –> degeneration of the retinal nerve –> optic atrophy
  • DECREASED PENETRANCE: >50% M and >85% F with mutation have no symptoms
  • smoking and EtOH worsen prognosis
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38
Q

Pendred syndrome

A
  • SLC26A4
  • AR
  • bilateral severe SNHL
  • temporal bone abnormalities
  • enlarged vestibular aqueduct
  • goiter in 75%
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39
Q

Usher syndrome

A
  • MYO7A, USH2A (9 others)
  • AR
  • Type I: congenital profound HL, balance problems, RP onset pre-puberty
  • Type II: congenital mild-severe HL, normal balance, RP onset teens-20s
  • Type III: prgressive later onset HL, progressive balance probs, variable onset RP
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40
Q

Waardenburg syndrome

A
  • PAX3
  • AD
  • congential HL and abnormal pigmentation
  • type 1: SNHL, heterochromia, white forelock, dystopia canthorum (eyes appear widely spaced)
  • type 2: 1 without dystopia conthorum
  • type 3: 1 with limb involvement (hypoplasia, contracture, syndactyly)
  • type 4: 1 with Hirschsprung
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41
Q

Acute Intermittent Porphyria

A
  • HMBS
  • AD
  • episodes of vomiting, constipation, abdominal pain, muscle weakness, seizure, hysteria (can be life threatening d/t respiratory paralysis)
  • environmental factors can trigger symptoms
  • increased PGB conc. in urine
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42
Q

Alpha Thalassemia

A
  • HBA1, HBA2
  • AR
  • HB Bart: 4 muts - hydrops fetalis, neonatal death
  • HbH disease: 3 muts - microcytic hypochromic hemolytic anemia, HSM, jaundice
  • Alpha thal trait: 2 muts - low MCV, low MCH, normal Hgb A2 and F levels (SE Asians have higher chance of being in cis)
  • Silent carrier: 1 mut - no signs or mild thalassemia like effect
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43
Q

Beta Thalassemia

A
  • HBB
  • AR
  • 2 muts: thal intermedia OR thal major (depends where the mut is in the gene) severe anemia and HSM, FTT and shortened life expec. w/o treatment
  • 1 mut: thal trait - present later with milder anemia
  • low MCV, elevated Hgb A2
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44
Q

Factor V Leiden Thrombophilia

A
  • F5
  • AD (mod inc risk of VTE), AR (sig inc risk of VTE)
  • increased LT risk of venous thromboembolism (10% in hets, >80% in homs)
  • het: 2-3x inc risk pregnancy loss
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45
Q

Hemophilia A

A
  • F8
  • XLR
  • aka factor VIII deficiency
  • delayed clotting, excessive bruising
  • hemarthrosis, intracranial bleeds, deep muscle hematomas
  • testing: 50% have intron 22-A inversion
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46
Q

Hemophilia B

A
  • F9
  • XLR
  • aka Christmas disease
  • not clinically distinguishable from type A
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47
Q

Hereditary Hemochromatosis

A
  • HFE
  • AR (low penetrance)
  • high iron absorption
  • abdominal pain, weakness, lethargy, weight loss
  • adult onset
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48
Q

XL Agammaglobulinemia (aka Bruton’s Agammaglobulinemia)

A
  • BTK
  • XLR
  • Immune deficiency: low B cells lead to decreased antibodies
  • recurrent infections: otitis media, pneumonia, sinusitis, sepsis, meningitis, cellulitis
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49
Q

Familial Mediterranean Fever

A
  • MEFV
  • AR
  • recurrent episodes of painful inflammation of abdomen, chest, or joints
  • childhood/teen onset
  • amyloidosis: can damage organs, especially kidneys
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50
Q

Aarskog syndrome

A
  • FGD1
  • XLR
  • hypertelorism
  • shawl scrotum
  • brachydactyly
  • short stature
  • cryptorchidism
  • cervical vertebral anomalies
  • ID in 30%
  • CARRIER may show mild features
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51
Q

Antley-Bixler syndrome

A
  • POR
  • AR
  • craniosynostosis
  • facial hypoplasia
  • choanal stenosis/atresia
  • bowing of long bones
  • joint contractures/ malformations
  • renal malformations
  • ambiguous genitalia
  • maternal virilization during preg. with affected fetus
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52
Q

Bardet-Biedl syndrome

A
  • BBS1, BBS10
  • AR (10% thought to be TRIALLELIC)
  • vision loss (cone-rod dystrophy)
  • obesity
  • polydactyly
  • renal dysfunction/disease
  • male hypodonadism, female GU malformations
  • cog, impairment and significant learning difficulties
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53
Q

Branchiootorenal syndrome (BOR)

A
  • EYA1, SIX1, SIX5
  • AD
  • Ear: malformations cause conductive, SN, or mixed hearing impairment; preauricular pits/tags
  • Neck: branchial cysts and fistulae
  • Kidney: structural/ functional abnormalities, can cause ESRD late in life
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54
Q

CHARGE syndrome

A
  • CHD7
  • AD
  • Coloboma
  • Heart defect (conotruncal defects, arch abnormalities)
  • Atresia (choanal)
  • Retardation (growth and mental)
  • Genitourinary malformations
  • Ear anomalies or deafness
  • also commonly see cleft palate or TEF
  • 20-25% mortality in first yr
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55
Q

Coffin-Lowry syndrome

A
  • RPS6KA3
  • XLD
  • M more affected than F
  • Severe to profound ID/DD
  • Stimulus induced drop episodes (FAINTING GOATS)
  • Prominent forehead, wideley spaced downslanting eyes, short nose, wide mouth with full lips, prominent ears
  • soft hands with short tapered fingers
  • microcephaly
  • kyphoscoliosis
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56
Q

Cornelia de Lange syndrome

A
  • NIPBL, SMC1L1, SMC3
  • AD (NIPBL, SMC3), XLR (SMC1L1)
  • IUGR and postnatal GR –> short stature
  • microcephaly
  • mod to severe ID
  • arched eyebrows w/ synophrys, long eyelashes, low-set ears, upturned nose
  • upper limb anomalies
  • behavioral issues
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57
Q

Cri du Chat (5p minus)

A
  • 5p15.2 del (80% on pat chromosome)
  • cat-like cry d/t abn. laryngeal development
  • microcephaly, ID, hypotonia, stabismus
  • hypertelorism, epicanthal folds, low-set ears
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58
Q

Fryns syndrome

A
  • unknown gene
  • AR
  • diaphragmatic hernia
  • DWM, ACC
  • pulm hypoplasia
  • distal digital hypoplasia
  • encephaloce
  • most die prenatally/early infancy d/t pulm hypoplasia
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59
Q

Greig Cephalopolysyndactyly (GCPS)

A
  • GLI3
  • AD
  • macrocephaly
  • hypertelorism
  • preaxial polydactyly
  • cutaneous syndactyly
  • Can have DD/ID, seizures
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60
Q

Joubert syndrome

A
  • NPHP1, AHI1, CEP290, TMEM67
  • AR
  • MOLAR TOOTH SIGN in brain on MRI
  • hypotonia in infancy leading to ataxia
  • DD/ID
  • unusually fast or slow breathing in infancy
  • abnormal eye movements
  • broad forehead, arched eyebrows, ptosis, hypertelorism, triangle-shaped mouth
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61
Q

Kabuki syndrome

A
  • MLL2/KMT2D (66%), KDM6A
  • AD, XLD
  • facial features: arched eyebrows, long eyelashes, long palperal fissures, flat broad nose tip, large ears
  • fetal finger pads
  • joint laxity
  • high palate, CL/P
  • hypotonia
  • short stature
  • mild to severe ID/DD
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62
Q

Monosomy 1p36

A
  • most common terminal deletion syndrome
  • hypotonia, DD, GR, obesity, microbrachycephaly, nonverbal
  • behavior issues
  • seizures
  • straight eyebrows, deep set eyes, posteriorly rotated ears
  • can have cardiac, hearing issues
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63
Q

Prader-Willi syndrome

A
  • 15q11-13 (70% pat del, 15% mat UPD, 1-2% imprint defect)

- hypotonia, DD, hyperphagia, short stature, small hands and feet, hypogonadism, ID, behavioral problems, infertillity

64
Q

Rubenstein-Taybi syndrome

A
  • CREBBP, EP300
  • AD (sporadic)
  • short statue, severe ID, broad thumbs and first toes
  • talon cusp teeth
  • acquired microcephaly, beaked nose, ptosis
  • CHDs, coloboma, cataract, cryptorichidism, behavior issues
  • increased risk of tumors and leukemia
65
Q

Smith Magenis syndrome

A
  • RAI1
  • AD (sporadic)
  • mild to mod ID, delayed speech and lang, sleep disturbances, behavioral problems (self-hug, lick & flip)
  • infantile feeding probs, FTT, hypotonia
  • brachycephaly, midface retrusion, square shaped face, close deep-set eyes
66
Q

VACTERL association

A 
Vertebral anomalies
Anal atresia
Cardiac malformations
TEF
Esophageal atresia
Renal anomalies
Limb anomalies
- dx requies 3/7 features
- dx of exclusion - rule out aneuplodiy, fanconi anemia, townes-brocks syndrome
67
Q

Wolf-Hirschorn syndrome

A
  • 4p del (87% de novo, 13% unbalanced translocation from balanced parent)
  • “greek warrior helmet”: broad flat nasal bridge, wide space protruding eyes, small chin, facial asymmetry
  • microcephaly, pre/postnatal growth deficiency
  • variable ID, seizures
  • scoliosis, dental probs, CL/P
68
Q

XL Adrenoleukodystrophy

A
  • ABCD1
  • XLR
  • Peroxisomal disorder: demyelination and adrenocortical insufficiency
  • childhood cerebral form: ADHD –> total disability in few years (lethal) - LORENZOS OIL
  • Adrenomyeloneuropathy form: late 20’s onset progressive paraparesis, bladder control issues, adrenocortical dsfxn
  • Addison disease only form: adrenocortical insufficiency (seen in 20% CARRIER females)
69
Q

Early Onset Familial Alzheimer Disease (EOFAD)

A
  • PSEN1, APP, PSEN2
  • AD
  • onset <60y
  • dementia, confusion, poor judgement, lang disturbance, agitation, etc.
  • accounts for 1-6% of all Alzheimer’s
70
Q

Angelman syndrome

A
  • UBE3A
  • loss of mat 15q11-13 (65-75% del, 11% gene mut, 2% imprint defect, <1% pat UPD)
  • severe ID/DD, speech impairment, ataxia, happy demeanor, acquired microcephaly, seizures
  • prognathia, wide mouth, spaced teeth, strabismus
71
Q

CADASIL

A
  • NOTCH3
  • AD
  • Cerebral AD Arteriopathy with Subcortical Infarcts & Leukoencephalopathy
  • strokelike episodes before 60y, cog. disturbances, behavioral abnormalities, migraine w/ aura
72
Q

Canavan disease

A
  • ASPA
  • AR
  • leukodystrophy that causes demyelination
  • severe hypotonia, macrocephaly, DD by 3-5mos, never sit, walk, speak
  • feedind issues and seizures may develop
  • lethal in childhood/teens
  • mild/juvenile form is less common and causes mild DD and speech/motor skills
73
Q

Familial Dysautonomia

A
  • IKBKAP
  • AR
  • abnormal development of autonomic nervous system
  • absence of fungiform papillae on the tongue
  • altered sensitivity to pain and temp
  • hypotonia, feeding issues, poor growth, lack of tears, frequent lung infections, diff. maintaining body temp
  • breath holding
  • speech and walking usually delayed
  • vomiting episodes, poor balance, scoliosis, poor bone quality
  • decreased life expectancy
74
Q

Fragile X

A
  • FMR1
  • XL triplet repeat CGG
  • NL: 5-44, gray: 45-58, premut: 59-200, mut >200
  • causes silencing by methylation
  • DD/ID, prominent jaw and forehead, autistic features
  • CARRIER females: anxiety, OCD, depression, POF; CARRIER males: ataxia, termors, parkiinsoniam
75
Q

Huntington Disease

A
  • HD
  • AD triplet repeat CAG
  • 27-35: no symptoms, but risk of expansion in kids; 36-39: reduced penetrance; 40+ fully penetrant; 60+ juvenile onset
  • progressive motor disability, cognitive decline, psych disturbances
  • mean onset: 35-44y, avg death: 55y
76
Q

Krabbe Disease

A
  • GALC
  • AR
  • Infantile: irritability to stimuli, muscle hypertonia, peripheral neuropathy, white matter disease, elevated CSF protein
  • avg. age of death: 13mos d/t infections or resp failure
  • Late onset (6mos - 50’s): weakness, vision loss, intellectual regression
  • test for dec GALC enzyme activity
77
Q

Neurofibromatosis 1

A
  • NF1
  • AD (50% de novo)
  • CAL macules, neurofibromas, axillary/inguinal freckling, optic glioma, lisch nodules, sphenoid dysplasia
  • can have ID and macrocephaly
78
Q

Parkinson disease

A
  • PARK2 (and others)
  • AD, AR, multifactorial
  • bradykinesia, rigidity, tremor, asymmetric limb involvement
  • AR PARK2 muts causes juvenile onset form (20-40y)
79
Q

Rett syndrome

A
  • MECP2
  • XLD
  • developmental regression, acquired microcephaly, stereotypical hand movements, hyperventilation, bruxism, prolonged QT
80
Q

Wilson disease

A
  • ATP7B
  • AR
  • copper storage disease
  • liver disease, movement disorder, disorganization of personality, Kayser-Fleisher rings on eye exam
  • onset from 3-50yrs
81
Q

ALS

82
Q

Charcot Marie Tooth Disease

A
  • mostly AD
  • AD: PMP22 (duplication), MPZ, MFN2
  • AR: GDAP1
  • XL: GJB1
  • slowly progressive weakness of distal muscles
  • high foot arch
  • foot drop gait
  • hammer toes
  • loss of muscle in lower legs
  • finger contractures
83
Q

DMD/BMD

A
  • DMD del
  • XLR
  • DMD: onset before 5y, progressive symmetrical muscle weakness, proximal –> distal, DCM (out of frame deletions)
  • BMD: later onset, less severe, weakness, activity induced cramping (in frame deletions)
  • CK 10x nl in DMD, 5x nl in BMD
  • 10-30% CARRIER females have mild features
84
Q

Freidreich’s Ataxia

A
  • FRDA triplet repet (GAA)
  • AR
  • prog. degeneration of spinal cord and cerebellum
  • impaired speech, hearing, and vision
  • HCM
  • 5-33 normal, 34-65 premutation, 66+ disease
85
Q

Hereditary Neuropathy with Liability to Pressure Palsies

A
  • PMP22 (deletion)
  • AD
  • recurrent focal pressure palsies
  • absent ankle reflexes
  • reduced DTRs
86
Q

Limb-Girdle Muscular Dystrophy

A
  • SGCA, SGCB, SGCG, SGCD, CAPN3, FKRP, LMNA
  • Mostly AR, rarely AD
  • proximal limb weakness (shouler and pelvic girdle)
  • diff. running/walking
  • calf muscle hypertrophy
  • lordosis/scoliosis
87
Q

Myotonic Dystrophy, type 1

A
  • DMPK, triplet repeat (CTG)
  • AD, mat. anticipation
  • 50-150 repeats = Mild: cataracts and myotonia
  • 100-1000 repeats = Classic: muscle weakness and wasting, cataract, arrhythmia, unable to release HANDSHAKE quickly, hair loss, diabetes
  • > 2000 repeats - Congenital: hypotonia, resp, insufficiency, club foot, ID/DD, facial weakness
88
Q

Nemalin Myopathy

A
  • ACTA1, NEB
  • AR (mostly), AD
  • weakness, hypotonia, dep./absent DTRs
  • muscle biopsy for nemaline bodies
  • onset congenital/childhood with NEB, any age with ACTA1
89
Q

SMA

A
  • SMN1, SMN2
  • AR
  • 4% have SMN1 copies in cis which makes carrier screening unreliable
  • I: onset 0-6mos - tongue twitch, absent DTRs
  • II: onset after 6mos - finger trembling, low tone, absent DRTs
  • III onset 2-3y, proximal weakness (legs>arms), frequent falls
  • IV adult onset
90
Q

Syndromic Congenital Muscular Dystrophy (Fukuyama, Muscle-Eye-Brain, Walker-Warburg)

A
  • FCMD, POMGNT1, POMT1, POMT2, LARGE
  • AR
  • congenital muscle weakness, hypotonia, contractures
91
Q

Tay Sachs

A
  • HEXA
  • AR
  • infantile weakness
  • Exaggerated startle
  • seizures and vision loss by 1y
  • late onset: psychosis
  • cherry red spot on eye exam
  • do enzyme testing and DNA testing
92
Q

Beckwith-Wiedemann syndrome

A
  • CDKN1C, H19, KCNQ1OT1
  • AD
  • abnormal methylation (50%), paternal UPD 11, usually mosaic (20%), CDKN1C muts
  • hemihyperplasia
  • macrosomia
  • macroglossia
  • embryonal tumors (Wilms)
  • omphalocele
  • neonatal hypoglycemia
  • ear creases/pits
  • renal abnormalities
93
Q

Sotos syndrome

A
  • NSD1
  • AD (>95% de novo)
  • overgrowth, macrocephaly, advanced bone age, ID/DD, long narrow face, high forehead, small pointed chin, behavioral issues
  • possible increased risk of tumors
94
Q

Ataxia with Oculomotor Apraxia

A
  • APTX, SETX
  • AR
  • childhood onset slow prog. cerebellar ataxia
  • oculomotor apraxia (hard to move eyes side to side)
  • increased cholesterol in blood
95
Q

Cockayne syndrome

A
  • ERCC6, ERCC8
  • AR
  • microcephaly, FTT, DD, very short stature
  • photosensitivity
  • can have vision/hearing loss, contractures, severe tooth decay
96
Q

Hutchinson-Gilford progeria syndrome

A
  • LMNA
  • AD (all de novo, APA)
  • FTT, prominent eyes, beaked nose, small chin, alopecia, low subcutaneous fat
  • NORMAL intellect and motor skills
  • arteriosclerosis
  • normal appearing at birth and in early infancy
97
Q

Alpha-1-Antitrypsin Deficiency

A
  • SERPINA1
  • AR
  • adult COPD
  • child and adult liver disease (cirrhosis/jaundice)
  • inc risk liver cancer
  • liver transplant is a CURE
98
Q

CF

A
  • CFTR
  • AR
  • meconium ileus, malabsorption d/t panc insufficience, chronic airway infxn, male infertility, rectal prolapse
  • CBAVD occurs in men w/o pulm or GI features of CF
  • sweat test
  • R117H mutation
99
Q

Alport syndrome

A
  • COL4A5 (XL), COL4A4 (AR/AD), COL4A3 (AR/AD)
  • XL (80%), AR (15%), AD (5%)
  • Kidney: hematuria, proteinuria, progress to ESRD (60% by 30, 90% by 40)
  • Hearing: SNHL onset late childhood/early adultthood
  • Eye: ANTERIOR LENTICONUS
100
Q

Polycystic Kidney Disease

A
  • PKD1 (AD), PKD2 (AD), PKHD1 (AR)
  • AD: cysts, hematuria, UTI, flank pain
  • AR: fetal or neonatal death d/t pulm hypoplasia and oligohydramnios
101
Q

Fetal Alcohol syndrome

A
  • pre/postnatal growth deficiency
  • dysmorphic features (broad nasal root, thin upper lip, smooth philtrum)
  • microcephaly
  • Cardiac defects
  • ID
102
Q

SLO

A
  • DHCR7
  • AR
  • test: inc. 7-DHC and dec. cholesterol
  • microcephaly
  • 2/3 toe syndactyly
  • ptosis, anteverted nares
  • genital abnormalties
  • growth deficiency, hypotonia
  • mod to severe ID
103
Q

Seckel syndrome

A
  • ATR, SCKL2, SCKL3 CENPJ
  • AR
  • short stature (form of primordial dwarfism)
  • microcephaly, ID
  • facial features: prominent nose, missing teeth, overbite, large eyes (“bird like”)
104
Q

Pitt Hopins

A
  • TCF4
  • severe ID (nonverbal)
  • episodic hyperventilation/breath holding
  • normal growth w/ microcephaly
  • behavior issues, seizures, myopia, stereotypies
105
Q

Simpson-Golabi-Behmel syndrome

A
  • GPC3, GPC4
  • XL
  • macrosomia
  • increased risk of embryonal tumors
  • cardiac conduction defects
  • macrocephaly, coarse facies, ID, skeletal anomalies
106
Q

Meckel Gruber syndrome

A
  • 8 genes (locus heterogenetiy)
  • AR
  • encephalocele + polydactyly + polycystic kidneys
  • majority result in perinatal death
  • ciliopathy
107
Q

L1 syndrome

A
  • L1CAM
  • XL
  • hydrocephalus
  • abducted thumb
  • spasticity
  • severe ID
108
Q

XL Lissencephaly with ambiguous genitalia

A
  • ARX
  • XL
  • lissencephaly, absent corpus callosum, genital abnormalities, seizures, abnormal body temp regulation
109
Q

Miller-Dieker syndrome

A
  • 17p deletion
  • lissencephaly, microcephaly, agenesis of the corpus callosum
  • omphalocele, CHD
  • furrowing of the forehead, micrognathia, low-set ears
  • death usually by 2y
110
Q

Walker-Warburg syndrome

A
  • POMT1, FKTN, POMT2
  • AR
  • lissencephaly,, encephalocele, microcephaly, DWM
  • congential mucular dystrophy
  • eye and genital anomalies
  • 90% die within 1y
111
Q

Aicardi syndrome

A
  • unknown genetics (?XLD)
  • agenesis of the corpus callosum
  • chorioretinal lacunae (pathognomonic depigmented area of eye)
  • microcephaly, infantile spasms, nonverbal
112
Q

Tuberous sclerosis

A
  • TSC1, TSC2
  • AD (2/3 de novo)
  • seizures
  • hypopigmented macules, facial angiofibromas, shagreen palques, ungal fibromas
  • rhabdomyomas
  • renal issues
113
Q

Mowat wilson syndrome

A
  • ZEB2
  • AD (de novo)
  • ACC, seizures, microcephaly
  • hirschsprung disease, GU anomalies (hypospadius), CHDs
  • dysmorphic facies more sev. w/ age: open mouth expression, hypertelorism, low columella, prominent pointed chin
114
Q

Emery-Dreifuss muscular dystrophy

A
  • EMD (XL), LMNA (AD)
  • joint contractures
  • muscle weakness/wasting (distal to proximal)
  • cardiomyopathy
  • variable onset, severity, and progression
115
Q

Facio-Scapulo-Humeral dystrophy

A
  • D4Z4 del on 4q
  • AD (10-30% de novo)
  • progressive muscle weakness begins in face progresses to shoulders, upper arms, lower legs
  • scapular winging and popeye arms
116
Q

Oculopharyngeal MD

A
  • PABPN1, GCG triplet repeat expansion
  • AD (12+ repeats), AR (11 repeats)
  • eye (ptosis) and throat (dysphagia) muscle involvement
117
Q

Muenke syndrome

A
  • FGFR3
  • AD
  • very flat forehead
  • midface hypoplasia, ptosis, hypertelorism, SNHL
  • gene (+) parent may have just macrocephaly
118
Q

Apert syndrome

A
  • FGFR2
  • AD
  • flat forehead and brachycephaly
  • cervical vertebrae fusion
  • mitten syndactyly
119
Q

Saethre-Chotzen syndrome

A
  • TWIST1
  • AD
  • cone-shaped head
  • low frontal hairline
  • facial asymmetry
  • small ears
120
Q

Pfeiffer syndrome

A
  • FGFR1, FGFR2
  • flat face with prognathism
  • beaked nose, proptosis
  • weak breathing system
121
Q

Crouzon syndrome

A
  • FGFR2
  • significant proptosis
  • prominent beaked nose
  • maxillary hypoplasia
  • NORMAL intellect, hands, and feet
122
Q

Van der Woude

A
  • IRF6
  • syndromic clefting
  • lip pits
123
Q

Stickler syndrome

A
  • COL2A1, COL11A1
  • AD, rarely AR
  • high myopia, cataracts, retinal detachment
  • Pierre Robin sequence and midface hypoplasia
  • hypermobility, arthritis
  • hearing loss
  • need glasses but nothing for the glasses to rest on
124
Q

Treacher Collins syndrome

A
  • TCOF1
  • AD (60% de novo)
  • mandibular hypoplasia
  • lower lid coloboma
  • conductive HL
125
Q

Epidermolysis bullosa

A
  • KRT5, KRT14
  • AD
  • very fragile skin
126
Q

Refsum disease

A
  • PHYH
  • AR
  • RP + anosmia
  • peripheral neuropathy, cerebellar ataxia
127
Q

WAGR

A
  • 11p del
  • Wilms tumor
  • Aniridia
  • GU anomalies
  • Retardation
128
Q

Lowe syndrome

A
  • OCRL
  • XL
  • congenital cataracts
  • infantile glaucoma
  • ID, hypotonia, renal dysfunction
129
Q

Werner syndrome

A
  • WRN
  • AR
  • cataracts
  • premature aging/death
  • diabetes
130
Q

Fabry disease

A
  • GLA
  • XL
  • alpha-galactosidase deficiency
  • corneal/lenticular opacities
  • angiokeratomas, hypohidrosis, cardiac and renal disease
131
Q

Homocystinuria

A
  • CBS
  • AR
  • marfanoid, high myopia, ectopia lentis (down)
  • DD/ID
  • can have psychosis, schizophrenia
132
Q

Osteogenesis Imperfecta

A
  • COL1A1, COL1A2
  • AD
  • bone fractures, blue sclerae, bowed femors, deafness, enamel defects
  • wormian bones, beaded ribs
  • II>III>IV>I (most mild)
133
Q

Wolfram syndrome (DIDMOAD)

A
  • WFS1
  • AR
  • Diabetes insipidus, diabetes melitus, optic atrophy, and deafness
134
Q

Galactosemia

A
  • GALT, GALK1, GALE
  • AR
  • deficiency in GALT enzyme -> inability to break down galactose
  • poor growth, cog. decline, and neuro defecits likely even with early diet restriction
  • females have streak gonads and infertility
135
Q

Kartagener syndrome

A
  • DNAI1, many genes
  • AR
  • PCD + situs inversus
  • infertility
136
Q

Birt-Hogg-Dube syndrome

A
  • FLCN
  • AD
  • Lung: cysts, spontaneous pneumothorax
  • Kidney: renal tumors (chromophobe/oncocytoma)
  • Skin: cutaneous lesions (folliculomas)
137
Q

Dyskeratosis Congenita

A 
AD: TERT, TERC, TINF2
XL: DKC1
- short telomere syndrome
- dysplastic nails, lacy pigmentation of upper chest, oral white lesions
- pulmonary fibrosis
- bone marrow failure
138
Q

Townes-Brocks syndrome

A
  • SALL1
  • AD
  • lop ear with HL
  • anal atresia
  • thumb malformations
  • most have normal intellect
139
Q

Ellis-van Crevald syndrome

A
  • EVC
  • AR
  • primarily in Amish
  • short limbs, small rib case, postaxial polydactyly
  • natal teeth, dysplastic nails
  • cardiac defects (AV canal)
140
Q

Von Willebrand disease

A
  • AD
  • most common inherited bleeding disorder
  • easy bruising, epistaxis,
141
Q

G6PD deficiency

A
  • G6PD
  • XLR
  • triggers: infections, fava beans, oxidative drugs, toxins
  • acute hemolytic anemia
  • prolonged neonatal jaundice
142
Q

Hereditary sperocytosis

A
  • ANK1
  • AD
  • jaundice, anemia, spelomegaly
  • most common inherited anemia in N. europeans
143
Q

Wiskott Aldrich sydnrome

A
  • WASP
  • XL
  • immune deficiency and clotting problems
  • abnormal WBCs and low platelets
  • treatment - BM transplant
144
Q

Pallister Hall syndrome

A
  • GLI3
  • AD (25% do novo)
  • polydactyly, imperforate anus, renal and GU anomalies, TE anomalies, hamaratoma
145
Q

XL Opitz G/BBB

A
  • MID1
  • XL
  • hypertelorism, prom. firehead, widows peak, broad nasal bridge, anteverted nares
  • TE defects (clefts)
  • GU abnormalities
  • CL/P
  • DD/ID
  • cardiac defects, midline brain defect
146
Q

Thanatophoric dysplasia

A
  • FGFR3
  • AD (all de novo)
  • lethal: SB or neonatal death
  • telephone receiver long bones
  • cloverleaf skull
  • polyhydramnios
147
Q

Achondorplasia

A
  • FGFR3 (G380R)
  • AD (80% de novo)
  • macrocephaly
  • HL
  • rhizomelia (short long bones)
  • kyphosis
  • knee instability
  • c-spine instability
  • hypermobility
148
Q

Camptomelic dysplasia

A
  • SOX9
  • AD
  • bowed tibia
  • 11 pairs of ribs
  • club foot
  • female appearing genitalia in XY males
  • usually lethal d/t resp. insufficiancy
149
Q

Diastrophic dysplasia

A
  • DTDST
  • AR
  • club foot, c-spine scoliosis
  • hitchhiker thumbs
  • cauliflower ears (hypertrophic cartilage)
  • Finland founder mut
  • very short limbs
150
Q

Shprintzen-Goldberg syndrome

A
  • SKL
  • AD
  • craniosynostosis
  • ID/DD
  • brain anomalies
  • ## skeletal abnormalities and connective tissue symptoms
151
Q

Zellweger syndrome

A
  • AR
  • increased very long chain fatty acids
  • peroxisomal disorder
  • profound neonatal hypotonia, seizures, poor feeding, liver cysts w/hepatic dysfunction, flattened face, broad nasal bridge, high forehead
  • fatal resp. Insufficiency by 1y
152
Q

Langer Gideon syndrome

A
  • mostly sporadic deletion of chromosome 8
  • bone abnormalities
  • ostochondromas
  • short stature
  • cone shaped epiphyses
153
Q

Thrombocytopenia with absent radius

A
  • RBM8A
  • AR
  • thrombocytopenia
  • absent radius with present thumb
154
Q

Robinow syndrome

A
  • ROR2 (AR)
  • WNT5A, DBL1 (AD)
  • skeletal dysplasia, shortening of long bones, brachydactyly, wedge shaped vertebrae, fetal facial features, (AD is more mild)
155
Q

Cleidocranial Dysplasia

A
  • RUNX2
  • AD (variable expressivity)
  • hypoplastic/absent clavicles
  • dental abnormalities
  • delayed fontanel closing
  • prominent forehead, hypertelorism
  • increased c-section rates (narrow pelvis)
  • slightly shorter than family members

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