Term
| 22q microdeletion syndrome |
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Definition
| CATCH-22: cardiac defect (conotruncal), abnormal facies (tubular nose), T cell deficit, cleft palate, hypocalcemia |
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Term
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Definition
AD, FGFR3 mutation
short stature, large head |
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Term
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Definition
X-linked
behavioral changes, abnl gait, increasing clumsiness, ataxia; may have adrenal insufficiency, hyperpigmentation |
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Term
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Definition
X-linked dominant, lethal in males
agenesis corpus callosum, chorioretinal lacunae, infantile spasms; microcephaly, axial hypotonia, MR |
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Term
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Definition
JAG1 & NOTCH2 mutations
paucity of bile ducts (biliary atresia), cardiac defects (peripheral pulmonic stenosis), eye abn, butterfly vertebrae, prominent forehead, hypertelorism with deep set eyes, pointed chin, bulbous nose, xanthomas, cardiac (peripheral pulmonary stenosis, TOF) |
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Term
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Definition
| ataxia, partial seizures, MR, liver disease |
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Term
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Definition
X-linked dominant; collagen defect
kidney failure/hematuria, deafness, eye abn |
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Term
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Definition
imprinting- loss of maternal genes; 15q11 deletion
MR, microcephaly, ataxic gait, jerky movements, seizures, laughter bouts, maxillary hypoplasia, deep set eyes, large mouth, prognathism, blond hair/blue eyes |
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Term
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Definition
| choanal atresia, craniosynostosis, syndactyly, MR |
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Term
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Definition
AR
early onset progressive cerebellar ataxia, telangiectasia, immunodeficiency, risk of malignancies |
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Term
| Bannayan-Riley-Ruvalcaba syndrome |
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Definition
| multiple hamartomas ok skin/mucous membranes/breast/thryoid |
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Term
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Definition
like loop diuretic
hypokalemia, alkalosis, hypercalciuria, FTT |
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Term
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Definition
aphthous stomatitis, genital ulceration, uveitis;
can also see GI ulcers, arthritis |
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Term
| Beckwith-Wiedemann syndrome |
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Definition
| macroglossia, earlobe crease/pits, macrosomia, hemihypertrophy, omphalocele, tumor risk (wilms, hepatoblastoma), hypoglycemia |
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Term
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Definition
AR
severe platelet dysfunction disorder- mild thrombocytopenia with giant platelets |
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Term
| Birth defects at risk with maternal DM |
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Definition
| neural tube defects, renal anomalies, heart defects- TGA, hypertrophic cardiomyopathy |
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Term
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Definition
AR, BLM gene
poor growth/FTT, T cell defects, telangiectatic erythema in malar distribution, birdlike face, primary hypogonadism |
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Term
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Definition
tryptophan transport defect
urine oxidizes & turns diaper blue |
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Term
| Bruton X-linked agammaglobulinemia |
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Definition
X-linked recessive
recurrent infections, eczema, skin problems- vitiligo, alopecia, |
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Term
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Definition
CHD7 mutation
coloboma, heart defects, choanal atresia/stenosis, retardation (growth/mental), GU anomalies, ear anomalies |
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Term
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Definition
infantile cortical hyperostosis
soft-tissue swelling, bony lesions, irritability
can mimic abuse |
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Term
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Definition
AR
abnormal white cells- lysosomal granules (see giant granules in neutrophils), abnormal chemotaxis; abnormal platelets; oculocutaneous albinism
lung & skin infections- with Staph aureus, GAS, pneumococcus |
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Term
| Chronic Granulomatous Disease |
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Definition
2/3rds X-linked; 1/3 AR
recurrent infections (catalase producers- Staph or gram neg), abscesses, sinus/pulmonary infections, osteomyelitis, granulomas |
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Term
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Definition
AD
abn skull bones, delayed closure AF, absent/hypoplastic clavicles, teeth anomalies, short stature |
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Term
| Cornelia De Lange syndrome |
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Definition
AD
IUGR/poor growth, limb abn, synophrys, short nose with anteverted nares, long eyelashes, microcephaly, long philtrum, MR, congenital heart defects |
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Term
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Definition
deletion of 5p
microcephaly, high palate, hyperteloric, epicanthal folds, low broad nose, high pitched cry |
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Term
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Definition
| craniosynostosis, high prominent forehead, proptosis, beak nose |
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Term
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Definition
AD
recurrent fever, aphthous ulcers, adenopathy, skin infections, pneumonia
period low WBC lasting 1 week, reappears q1month
Tx G-CSF |
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Term
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Definition
| CFTR gene mutation- NaCl transporter; delta F508 most common |
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Term
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Definition
| diffuse mesangial sclerosis, nephrotic syndrome, pseudohermaphroditism assoc with Wilms tumor |
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Term
| Diamond-Blackfan syndrome |
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Definition
AD
macrocytic anemia, thumb anomalies, growth delay, DD, heart failure, craniofacial anomalies, renal abnormalities
Tx steroids |
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Term
| Duchenne muscular dystrophy |
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Definition
X-linked recessive; dystrophin gene
childhood onset muscular weakness, carlf pseduohypertrophy, cardiomyopathy, some cognitive delays |
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Term
| Dx Criteria for Marfan syndrom |
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Definition
| Major criteria- dilation/dissection of ascending aorta, lubosacral dural ectasia, ectopia lentis, 4 skeletal manifestations (tall stature, high arched palate, dental crowding, hyperextensible joints, pectus excavatum) |
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Term
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Definition
=prune belly syndrome
deficienct abdominal musculature, cryptorchidism, urinary tract abnormalities (posterior urethral valves common) |
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Term
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Definition
| abn hair/teeth/nails, hypohydrosis |
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Term
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Definition
most AD
loose joints, fragile blood vessels, abn scar formation, soft velvety skin, easy bruising |
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Term
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Definition
X linked recessive
angiokeratomas, neuropathy, corneal changes |
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Term
| Familial Hypophosphatemic Rickets |
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Definition
AD or X-linked
low/nl Ca, high alk phos, low phos
frontal bossing, short stature, bowing limbs |
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Term
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Definition
AR
macrocytic anemia or thrombocytopenia, hyperpigmentation, abn thumbs/radial defects- absent thumb, short stature, hypogonadism, microcephaly, renal anomalies, GI atresia, DD
chromosomal structural abnormalities- prone to malignancies |
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Term
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Definition
| microcephaly, smooth philtrum, short palpebral fissures, growth deficiency, behavior problems |
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Term
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Definition
| microcephaly, IUGR, heart defects, cleft lip, short upturned nose, long upper lip, depressed nasal bridge, nail hypoplasia, hypoplasia of distal phalanges |
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Term
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Definition
| limb hypoplasia, eye damage, developmental delay, scarring |
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Term
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Definition
CGC repeat FMR1 gene, X-linked
MR, large ears, tall stature, large head/hands/feet, macro-orchidism |
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Term
| GI problems in trisomy 21 |
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Definition
| duodenal atresia, Hirschsprung |
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Term
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Definition
AD
extra teeth, premalignant intestinal polyps, osteomas |
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Term
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Definition
like thiazide diuretic
hypochloremia, alkalosis, hypokalemia, hypomagnesemia, nl calcium in urine |
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Term
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Definition
AR
functional platelet problem- present with bleeding, nl platelets & coags |
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Term
Glucose-6-phosphate dehydrogenase
G6PD |
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Definition
X-lined recessive
Heinz bodies
hemolytic anemia when exposed to oxidative stress- drugs (chloramphenicol, antimalarial drugs), fava beans |
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Term
| Hallerman Streiff syndrome |
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Definition
| pointed nose, bird-like face with small eyes, small teeth |
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Term
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Definition
defect in AA transport
pellagra-like: dermatitis, diarrhea, dementia |
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Term
| Heart defect in Noonan syndrome |
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Definition
| pulmonary valve dysplasia/stenosis; less common hypertrophic cardiomyopathy |
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Term
| Heart defect in Williams syndrome |
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Definition
| supravalvular aortic stenosis, peripheral pulmonic stenosis |
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Term
| Heart problems in Turner syndrome |
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Definition
| bicuspid aortic valves (most common), coarctation of aorta |
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Term
| Heart problems in trisomy 21 |
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Definition
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Term
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Definition
most common AD
defects in surface of RBC, most common spectric deficiency
increased MCHC |
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Term
| Hermansky-Pudlak syndrome |
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Definition
AR
severe bleeding- decreased dense granules in platelets, oculocutaneous albinism |
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Term
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Definition
| ASD, upper limb defects, three-jointed thumbs |
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Term
| How to dx chronic granulomatous disease |
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Definition
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Term
|
Definition
AR, ALPL gene
low alk phos, high/nl Ca, nl phos, nl vit D, nl PTH
rickets/fractures, FTT, premature loss of teeth, craniosynostosis |
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Term
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Definition
X-linked dominant
skin changes (linear lesions- blisters, warty appearance, hyperpigmentation), teeth abn (delayed eruption, hypodontia, microdontia, abn shape), eye (cataracts, microphthalmia) |
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Term
| Jervell-Lange-Nielson syndrome |
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Definition
AR
congenital long QT, deafness |
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Term
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Definition
AR
potentially lethal congenital dwarfism, skeletal dyslasias- narrow thorax, micromelia, resp restrictions/distress, renal disease |
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Term
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Definition
=hyper IgE syndrome
severe eczema, abn neutrophil fn- "cold" abscesses |
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Term
| Johanson-Blizzard syndrome |
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Definition
| pancreatic insufficiency, nostril hypoplasia/agenesis, cardiac anomalies, hypothryoid, GU defects, DD |
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Term
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Definition
=hypogonadotropic hypogonadism
no pubertal development, anisomia |
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Term
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Definition
AR
situs inversus, recurrent resp infections, bronchiectasis, infertility, dextrocardia |
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Term
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Definition
| hemangioma, thrombocytopenia, local DIC |
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Term
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Definition
| tall stature, small testes, gynecomastia, learning & behavorial problems |
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Term
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Definition
defect in formation of cervical vertebrae
short neck, low hairline, decreased cervical motion, high scapula
can have spina bifida, renal problems, deafness |
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Term
| Klippel-Trenaunay-Weber syndrome |
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Definition
| port wine stain, varicose veins, limb soft tissue/bony hypertrophy |
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Term
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Definition
=severe congenital neutropenia
AR
chronic neutropenia
risk of MDS/AML |
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Term
| Langerhans Cell Histocytosis |
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Definition
unifocal/multifocal/systemic presentations
seborrheic rash, ear discharge, skull lytic lesions, DI, excessive urination |
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Term
| Laurence-Moon-Bardet-Biedl syndrome |
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Definition
AR
obesity, retinitis pigmentosa, hypogenitalia, MR, polydactyly |
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Term
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Definition
| MR, self-mutilation, choreiform movements elevated uric acid level |
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Term
| Leukocyte adhesion deficiency |
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Definition
AR
delayed separation of umbilical cord, impaired wound gealing, skin infections/pneumonia, periodontal disease, very high WBC at baseline & even higher during infection |
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Term
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Definition
p53 tumor suppressor gene mutation
predisposed to multiple tumors/cancer- gliomas, ependymomas, rhabdomyosarcoma, osteosarcoma |
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Term
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Definition
hypertension, hypokalemia
like hyperaldosteronism but low aldo levels |
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Term
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Definition
AD
prolonged QT interval, sudden death |
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Term
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Definition
hypermobile joints, blindness/cataracts, MR, hypotonia, rickets
=oculocerebrorenal syndrome |
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Term
|
Definition
| hyperplasia of pancreas, anterior pituitary, parathyroid (PPP) |
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Term
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Definition
| pheochromocytoma, medullary carcinoma, hyperparathyroidism |
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Term
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Definition
FBN1 mutation; chr 15
tall stature, scoliosis, pectus, long fingers, myopia, dislocated lens, aortic dilation/dissection, mitral valve prolapse |
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Term
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Definition
| thrombocytopenia with large platelets, neutrophils with large blue Dohle-like bodies; most asymmtopmatic |
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Term
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Definition
GNAS1 gene
polyostotic fibrous dysplasia, cafe-au-lait spots (sponge like), autonomous endocrine hyperfunction- precocious puberty, adrenal adenomas, hyperthyroid |
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Term
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Definition
AR
occipital encephalocele, polycystic dysplastic kidneys, postaxial polydactyly |
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Term
| Most common inherited form of MR |
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Definition
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Term
Most mild type of osteogenesis impefecta;
lethal type of osteogenesis imperfecta; progressively deforming type |
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Definition
type I- mild
type 2- lethal
type 3- progressive deformities |
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Term
| Nephrogenic Diabetes Insipidus |
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Definition
X-linked, AR, or AD
polyuria, polydipsia, FTT |
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Term
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Definition
=juvenile-onset medullary cystic disease
AR
polyuria, enuresis, polydipsia, hyposthenuria (dilute urine); short stature, retinitis pigmentosa, anemia; progress to ESRD |
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Term
|
Definition
AD, 50% new mutation, NF-1 gene
cafe-au-lait macules, axillary/inguinal freckling, neurofibromas, lisch nodules, optic gliomas, skeletal abn, learning disabilities/ADHD |
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Term
|
Definition
AD
short stature, hypertelorism, low set ears, down slanting palpebral fissures, lymphedema, webbed neck, cryptorchidism, congenital heart disease |
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Term
|
Definition
type 1 collagen defect
osteopenia/fractures, short stature, scleral hue, dental abn, hearing loss |
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Term
|
Definition
AR
IUGR, arthrogryposis, pulmonary hypoplasia, expressionless face, neurogenic muscle atrophy, CNS anomalies, polyhydramnios |
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Term
|
Definition
AD
mucosal pigmentation of lips/gums, hamartomatous polyps of intestine |
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Term
|
Definition
| thumbs/great toes short/broad, prominent & wide spaced eyes |
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Term
|
Definition
| micrognathia, cleft palate |
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Term
| Polycystic Kidney Disease |
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Definition
AR or AD, PKD gene
renal cysts
AD- liver & pancreatic cysts, aneurysms, diverticulosis |
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Term
|
Definition
due to oligohydramnios, often from renal agenesis
flattened nose, recessed chin, epicanthal folds, low set ears, pulmonary hypoplasia, skeletal anomalies |
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Term
|
Definition
imprinting- loss of paternal genes, 15q11 deletion
hypotonia, FTT then obesity, small hands/feet, hypogonadism, short stature, learning problems |
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Term
|
Definition
| hamartomatous polyps, hemihypertrophy, gigantism of extremities, angiomas, pigmented nevi |
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Term
|
Definition
AD
elevated PTH, low Ca, elevated phos
short stature, obesity, abn teeth, short metacarpals |
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Term
|
Definition
AD
telangiectasias, recurrent epistaxis, multiorgan AVMs |
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Term
|
Definition
X-linked dominant, MECP2 gene
normal development then drop-off, microcephaly, hand-wringing, seizures, autistic features, arrhythmias |
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Term
|
Definition
AD
congenital long QT, (no deafness) |
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Term
| Rubenstein-Taybi syndrome |
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Definition
| broad thumb, cryptorchidism |
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Term
|
Definition
| small ht/wt & normal HC, triangular face, hemihypertrophy, cafe-au-lait spots, delayed bone age |
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Term
| Ruvalcaba-Myhre-Smith syndrome |
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Definition
| macrocephaly, pigmented penile lesions, hamartomatous polyps |
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Term
|
Definition
| bad posture, fixed kyphosis, back pain |
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Term
|
Definition
| pulmonary venous blood returned to IVC just above or below diaphragm; if large shunt, presents with resp distress & heart failure |
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Term
| Shwachman-Diamond syndrome |
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Definition
AR
pancytopenia- risk of recurrent skin/sinopulmonary infections, pancreatic exocrine insufficiency- steatorrhea, skeletal abnormalities, short stature |
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Term
|
Definition
xerostomia, xerophthalmia, parotitis
autoimmune disease, often occurs in conjunction with other autoimmune diseases |
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Term
|
Definition
AR inborn error of lipid metabolism
ichthyosis, spastic diplegia, MR, seizures, photophobia/decreased visual acuity |
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Term
| Smith-Lemli-Opitz syndrome |
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Definition
AR; defect in cholesterol synthesis
MR, microcephaly, hypotonia, cleft palate, polydactyly, syndactyly |
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Term
|
Definition
| Pierre-Robin sequence, hearing loss, lens dislocation/severe myopia |
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Term
|
Definition
| port-wine stain in trigeminal distribution, macrocephaly, angioma of meninges, glaucoma |
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Term
| TAR- Thrombocytopenia Absent Radius syndrome |
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Definition
AR
thrombocytopenia- hemorrhage, absent radii (but normal thumbs) |
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Term
| Transient erythroblastopenia of childhood |
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Definition
primary red cell aplasia, typically 18-26months, triggered by viral illness
No treatment |
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Term
| Treacher Collins syndrome |
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Definition
| conductive hearing loss, small jaw, ear anomalies, lower eyelid abn |
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Term
|
Definition
| microphthalmia, cleft lip/palate, cutis aplasia, polydactyly, GU abnormalities, congential heart disease |
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Term
|
Definition
| FTT, hypertonia, prominent occiput, low set ears, overlapping fingers, hypoplastic nails, rocker-bottom feet, horseshoe kidneys |
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Term
|
Definition
| brachycephaly, low set ears, hypotonia, upslanting palpebral fissures, wide space between 1st & 2nd toes, single palmar crease, Brushfield spots |
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Term
|
Definition
AD, TSC1/2 gene
ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac rhabdomyomas, renal tumors |
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Term
|
Definition
| nuchal webbing, pedal edema, congenital heart disease, short stature, wide spaced nipples, renal abnl (horseshoe or collecting system abnl) |
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|
Term
| VATER/VACTERL association |
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Definition
| Vertebral anomalies, Anal atresia, Cardiac anomalies, TE fistula, Esophageal atresia, Renal anomalies/Radial dysplasia, Limb anomalies |
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Term
| Von Hippel-Lindau syndrome |
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Definition
AD
renal cell carcinoma, retinal angiomas, CNS hemangioblastomas, pheochromocytoma, renal/pancreatic cysts |
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|
Term
|
Definition
Wilms tumor- Aniridia- GU abnormalities- MR
AD |
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Term
|
Definition
type I SMA; AR
onset in infancy, hypotonia/weakness, hyporeflexia, tongue fasiculations |
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Term
|
Definition
chr 7q11 microdeletion
short stature, short nose, puffy eyelids, stellate iris, full mouth, MR, behavior- cocktail party, cardiac defects |
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|
Term
|
Definition
X-linked
severe thrombocytopenia, eczema, immunodeficiency (T cell defect)- recurrent infections, diarrhea, FTT; high IgA, low IgM |
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|
Term
|
Definition
deletion of 4p
severe growth delay, mental retardation, microcephaly, greek-helmet facies, cleft lip/palate, coloboma, cardiac septal defects |
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|
Term
|
Definition
| diarrhea, cough, congestion, fevers, pneumonia, sepsis |
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|
Term
| Zollinger-Ellison syndrome |
|
Definition
gastrin secreting tumor, presents with symptoms of peptic ulcer disease
assoc with MEN-1 |
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