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Pediatric Syndromes Flashcards

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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
XL Adrenal Hypoplasia Congenita
- NR0B1 - XLR - acute onset adrenal insufficiency (high potassium, acidosis, hypoglycemia, shock) - cryptorchidism, delayed puberty - CARRIER may have adrenal insuff. or delayed puberty/absent menstruation
26
21-Hydroxylase-Deficiency (CAH)
- 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
27
Androgen Insensitivity Syndrome
- 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
28
Kallmann Syndrome
- 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
29
Kleinfelter syndrome
- XXY karyotype - shortage of testosterone - tall stature, delayed motor and lang skills, small testes, gynecomastia, infertility
30
McCune-Albright Syndrome
- 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
31
Transient Neontal Diabetes Mellitus
- 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
32
Turner syndrome
- 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
33
Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)
- 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
34
Congenital Hearing Loss
- GJB2 (connexin 26), GJB6 (connexin 30) - AR - congenital mild-profound SNHL
35
Hermansky-Pudlak syndrome
- HPS1 (Puerto Rican founder mut), HPS3, others - oculocutaneous albinism - blood clotting issues --> easy bruising and prolonged bleeding - pulmonary fibrosis
36
Jervell and Lange-Nielsen syndrome
- 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)
37
Leber Hereditary Optic Neuropathy (LHON)
- 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
38
Pendred syndrome
- SLC26A4 - AR - bilateral severe SNHL - temporal bone abnormalities - enlarged vestibular aqueduct - goiter in 75%
39
Usher syndrome
- 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
40
Waardenburg syndrome
- 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
41
Acute Intermittent Porphyria
- 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
42
Alpha Thalassemia
- 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
43
Beta Thalassemia
- 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
44
Factor V Leiden Thrombophilia
- 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
45
Hemophilia A
- F8 - XLR - aka factor VIII deficiency - delayed clotting, excessive bruising - hemarthrosis, intracranial bleeds, deep muscle hematomas - testing: 50% have intron 22-A inversion
46
Hemophilia B
- F9 - XLR - aka Christmas disease - not clinically distinguishable from type A
47
Hereditary Hemochromatosis
- HFE - AR (low penetrance) - high iron absorption - abdominal pain, weakness, lethargy, weight loss - adult onset
48
XL Agammaglobulinemia (aka Bruton's Agammaglobulinemia)
- BTK - XLR - Immune deficiency: low B cells lead to decreased antibodies - recurrent infections: otitis media, pneumonia, sinusitis, sepsis, meningitis, cellulitis
49
Familial Mediterranean Fever
- MEFV - AR - recurrent episodes of painful inflammation of abdomen, chest, or joints - childhood/teen onset - amyloidosis: can damage organs, especially kidneys
50
Aarskog syndrome
- FGD1 - XLR - hypertelorism - shawl scrotum - brachydactyly - short stature - cryptorchidism - cervical vertebral anomalies - ID in 30% - CARRIER may show mild features
51
Antley-Bixler syndrome
- 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
52
Bardet-Biedl syndrome
- 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
53
Branchiootorenal syndrome (BOR)
- 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
54
CHARGE syndrome
- 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
55
Coffin-Lowry syndrome
- 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
56
Cornelia de Lange syndrome
- 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
57
Cri du Chat (5p minus)
- 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
58
Fryns syndrome
- unknown gene - AR - diaphragmatic hernia - DWM, ACC - pulm hypoplasia - distal digital hypoplasia - encephaloce - most die prenatally/early infancy d/t pulm hypoplasia
59
Greig Cephalopolysyndactyly (GCPS)
- GLI3 - AD - macrocephaly - hypertelorism - preaxial polydactyly - cutaneous syndactyly - Can have DD/ID, seizures
60
Joubert syndrome
- 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
61
Kabuki syndrome
- 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
62
Monosomy 1p36
- 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
63
Prader-Willi syndrome
- 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
Rubenstein-Taybi syndrome
- 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
Smith Magenis syndrome
- 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
VACTERL association
``` 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
Wolf-Hirschorn syndrome
- 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
XL Adrenoleukodystrophy
- 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
Early Onset Familial Alzheimer Disease (EOFAD)
- PSEN1, APP, PSEN2 - AD - onset <60y - dementia, confusion, poor judgement, lang disturbance, agitation, etc. - accounts for 1-6% of all Alzheimer's
70
Angelman syndrome
- 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
CADASIL
- NOTCH3 - AD - Cerebral AD Arteriopathy with Subcortical Infarcts & Leukoencephalopathy - strokelike episodes before 60y, cog. disturbances, behavioral abnormalities, migraine w/ aura
72
Canavan disease
- 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
Familial Dysautonomia
- 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
Fragile X
- 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
Huntington Disease
- 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
Krabbe Disease
- 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
Neurofibromatosis 1
- NF1 - AD (50% de novo) - CAL macules, neurofibromas, axillary/inguinal freckling, optic glioma, lisch nodules, sphenoid dysplasia - can have ID and macrocephaly
78
Parkinson disease
- PARK2 (and others) - AD, AR, multifactorial - bradykinesia, rigidity, tremor, asymmetric limb involvement - AR PARK2 muts causes juvenile onset form (20-40y)
79
Rett syndrome
- MECP2 - XLD - developmental regression, acquired microcephaly, stereotypical hand movements, hyperventilation, bruxism, prolonged QT
80
Wilson disease
- ATP7B - AR - copper storage disease - liver disease, movement disorder, disorganization of personality, Kayser-Fleisher rings on eye exam - onset from 3-50yrs
81
ALS
- SOD1 | - AD
82
Charcot Marie Tooth Disease
- 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
DMD/BMD
- 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
Freidreich's Ataxia
- 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
Hereditary Neuropathy with Liability to Pressure Palsies
- PMP22 (deletion) - AD - recurrent focal pressure palsies - absent ankle reflexes - reduced DTRs
86
Limb-Girdle Muscular Dystrophy
- 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
Myotonic Dystrophy, type 1
- 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
Nemalin Myopathy
- 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
SMA
- 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
Syndromic Congenital Muscular Dystrophy (Fukuyama, Muscle-Eye-Brain, Walker-Warburg)
- FCMD, POMGNT1, POMT1, POMT2, LARGE - AR - congenital muscle weakness, hypotonia, contractures
91
Tay Sachs
- 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
Beckwith-Wiedemann syndrome
- 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
Sotos syndrome
- 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
Ataxia with Oculomotor Apraxia
- APTX, SETX - AR - childhood onset slow prog. cerebellar ataxia - oculomotor apraxia (hard to move eyes side to side) - increased cholesterol in blood
95
Cockayne syndrome
- ERCC6, ERCC8 - AR - microcephaly, FTT, DD, very short stature - photosensitivity - can have vision/hearing loss, contractures, severe tooth decay
96
Hutchinson-Gilford progeria syndrome
- 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
Alpha-1-Antitrypsin Deficiency
- SERPINA1 - AR - adult COPD - child and adult liver disease (cirrhosis/jaundice) - inc risk liver cancer - liver transplant is a CURE
98
CF
- 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
Alport syndrome
- 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
Polycystic Kidney Disease
- PKD1 (AD), PKD2 (AD), PKHD1 (AR) - AD: cysts, hematuria, UTI, flank pain - AR: fetal or neonatal death d/t pulm hypoplasia and oligohydramnios
101
Fetal Alcohol syndrome
- pre/postnatal growth deficiency - dysmorphic features (broad nasal root, thin upper lip, smooth philtrum) - microcephaly - Cardiac defects - ID
102
SLO
- 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
Seckel syndrome
- 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
Pitt Hopins
- TCF4 - severe ID (nonverbal) - episodic hyperventilation/breath holding - normal growth w/ microcephaly - behavior issues, seizures, myopia, stereotypies
105
Simpson-Golabi-Behmel syndrome
- GPC3, GPC4 - XL - macrosomia - increased risk of embryonal tumors - cardiac conduction defects - macrocephaly, coarse facies, ID, skeletal anomalies
106
Meckel Gruber syndrome
- 8 genes (locus heterogenetiy) - AR - encephalocele + polydactyly + polycystic kidneys - majority result in perinatal death - ciliopathy
107
L1 syndrome
- L1CAM - XL - hydrocephalus - abducted thumb - spasticity - severe ID
108
XL Lissencephaly with ambiguous genitalia
- ARX - XL - lissencephaly, absent corpus callosum, genital abnormalities, seizures, abnormal body temp regulation
109
Miller-Dieker syndrome
- 17p deletion - lissencephaly, microcephaly, agenesis of the corpus callosum - omphalocele, CHD - furrowing of the forehead, micrognathia, low-set ears - death usually by 2y
110
Walker-Warburg syndrome
- POMT1, FKTN, POMT2 - AR - lissencephaly,, encephalocele, microcephaly, DWM - congential mucular dystrophy - eye and genital anomalies - 90% die within 1y
111
Aicardi syndrome
- unknown genetics (?XLD) - agenesis of the corpus callosum - chorioretinal lacunae (pathognomonic depigmented area of eye) - microcephaly, infantile spasms, nonverbal
112
Tuberous sclerosis
- TSC1, TSC2 - AD (2/3 de novo) - seizures - hypopigmented macules, facial angiofibromas, shagreen palques, ungal fibromas - rhabdomyomas - renal issues
113
Mowat wilson syndrome
- 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
Emery-Dreifuss muscular dystrophy
- EMD (XL), LMNA (AD) - joint contractures - muscle weakness/wasting (distal to proximal) - cardiomyopathy - variable onset, severity, and progression
115
Facio-Scapulo-Humeral dystrophy
- 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
Oculopharyngeal MD
- PABPN1, GCG triplet repeat expansion - AD (12+ repeats), AR (11 repeats) - eye (ptosis) and throat (dysphagia) muscle involvement
117
Muenke syndrome
- FGFR3 - AD - very flat forehead - midface hypoplasia, ptosis, hypertelorism, SNHL - gene (+) parent may have just macrocephaly
118
Apert syndrome
- FGFR2 - AD - flat forehead and brachycephaly - cervical vertebrae fusion - mitten syndactyly
119
Saethre-Chotzen syndrome
- TWIST1 - AD - cone-shaped head - low frontal hairline - facial asymmetry - small ears
120
Pfeiffer syndrome
- FGFR1, FGFR2 - flat face with prognathism - beaked nose, proptosis - weak breathing system
121
Crouzon syndrome
- FGFR2 - significant proptosis - prominent beaked nose - maxillary hypoplasia - NORMAL intellect, hands, and feet
122
Van der Woude
- IRF6 - syndromic clefting - lip pits
123
Stickler syndrome
- 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
Treacher Collins syndrome
- TCOF1 - AD (60% de novo) - mandibular hypoplasia - lower lid coloboma - conductive HL
125
Epidermolysis bullosa
- KRT5, KRT14 - AD - very fragile skin
126
Refsum disease
- PHYH - AR - RP + anosmia - peripheral neuropathy, cerebellar ataxia
127
WAGR
- 11p del - Wilms tumor - Aniridia - GU anomalies - Retardation
128
Lowe syndrome
- OCRL - XL - congenital cataracts - infantile glaucoma - ID, hypotonia, renal dysfunction
129
Werner syndrome
- WRN - AR - cataracts - premature aging/death - diabetes
130
Fabry disease
- GLA - XL - alpha-galactosidase deficiency - corneal/lenticular opacities - angiokeratomas, hypohidrosis, cardiac and renal disease
131
Homocystinuria
- CBS - AR - marfanoid, high myopia, ectopia lentis (down) - DD/ID - can have psychosis, schizophrenia
132
Osteogenesis Imperfecta
- COL1A1, COL1A2 - AD - bone fractures, blue sclerae, bowed femors, deafness, enamel defects - wormian bones, beaded ribs - II>III>IV>I (most mild)
133
Wolfram syndrome (DIDMOAD)
- WFS1 - AR - Diabetes insipidus, diabetes melitus, optic atrophy, and deafness
134
Galactosemia
- 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
Kartagener syndrome
- DNAI1, many genes - AR - PCD + situs inversus - infertility
136
Birt-Hogg-Dube syndrome
- FLCN - AD - Lung: cysts, spontaneous pneumothorax - Kidney: renal tumors (chromophobe/oncocytoma) - Skin: cutaneous lesions (folliculomas)
137
Dyskeratosis Congenita
``` 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
Townes-Brocks syndrome
- SALL1 - AD - lop ear with HL - anal atresia - thumb malformations - most have normal intellect
139
Ellis-van Crevald syndrome
- EVC - AR - primarily in Amish - short limbs, small rib case, postaxial polydactyly - natal teeth, dysplastic nails - cardiac defects (AV canal)
140
Von Willebrand disease
- AD - most common inherited bleeding disorder - easy bruising, epistaxis,
141
G6PD deficiency
- G6PD - XLR - triggers: infections, fava beans, oxidative drugs, toxins - acute hemolytic anemia - prolonged neonatal jaundice
142
Hereditary sperocytosis
- ANK1 - AD - jaundice, anemia, spelomegaly - most common inherited anemia in N. europeans
143
Wiskott Aldrich sydnrome
- WASP - XL - immune deficiency and clotting problems - abnormal WBCs and low platelets - treatment - BM transplant
144
Pallister Hall syndrome
- GLI3 - AD (25% do novo) - polydactyly, imperforate anus, renal and GU anomalies, TE anomalies, hamaratoma
145
XL Opitz G/BBB
- 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
Thanatophoric dysplasia
- FGFR3 - AD (all de novo) - lethal: SB or neonatal death - telephone receiver long bones - cloverleaf skull - polyhydramnios
147
Achondorplasia
- FGFR3 (G380R) - AD (80% de novo) - macrocephaly - HL - rhizomelia (short long bones) - kyphosis - knee instability - c-spine instability - hypermobility
148
Camptomelic dysplasia
- SOX9 - AD - bowed tibia - 11 pairs of ribs - club foot - female appearing genitalia in XY males - usually lethal d/t resp. insufficiancy
149
Diastrophic dysplasia
- DTDST - AR - club foot, c-spine scoliosis - hitchhiker thumbs - cauliflower ears (hypertrophic cartilage) - Finland founder mut - very short limbs
150
Shprintzen-Goldberg syndrome
- SKL - AD - craniosynostosis - ID/DD - brain anomalies - skeletal abnormalities and connective tissue symptoms -
151
Zellweger syndrome
- 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
Langer Gideon syndrome
- mostly sporadic deletion of chromosome 8 - bone abnormalities - ostochondromas - short stature - cone shaped epiphyses
153
Thrombocytopenia with absent radius
- RBM8A - AR - thrombocytopenia - absent radius with present thumb
154
Robinow syndrome
- ROR2 (AR) - WNT5A, DBL1 (AD) - skeletal dysplasia, shortening of long bones, brachydactyly, wedge shaped vertebrae, fetal facial features, (AD is more mild)
155
Cleidocranial Dysplasia
- 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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