Eponyms Flashcards
Shwachman-Diamond Syndrome
- Autosomal recessive
- Bone marrow failure/aplasia (pancytopenia)
- Pancreatic insufficiency
- Bone/skeletal anomalies
Diamond-Blackfan Anemia
- Autosomal recessive
- Macrocytic aplastic anemia due to pure red cell aplasia (only the red cell line is affected) in an infant
- Triphalangeal thumbs and craniofacial anomalies
- Mnemonic: standing fan with three large black fan blades shaped like RBCs
Fanconi Anemia
- Autosomal recessive
- Macrocytic aplastic anemia in a child > 4yo
- Multiple anomalies (short stature, CAL spots, renal anomalies, microcephaly, hypogonadism, arm/hand anomalies like absent thumbs)
- Mnemonic: Ceiling fan with blades made of large cones, which have various body parts in them (hidden gonad, small head, kidney, and a hand)
- Tx: bone marrow transplant
Holt Oram Syndrome
(Autosomal dominant?)
- Cardiac defects (ASD or VSD)
- Upper limb defects (absent or hypoplastic radius or thumb, triphalangeal thumb, phocomelia)
Achondroplasia
A-kon’s mini me in the AD mneumonic
- Autosomal dominant (FGFR3 gene) short stature
- Rhizomelia (short arms/legs), trident-like fingers, genu varum (bowed-legs)
- Craniofacial deformities (macrocephaly, etc)
- Sudden death due to compression of cervicomedullary junction
- Normal IQ but infertility
Williams syndrome
-Microdeletion of Chromo 7q11
Elfin facies (smooth philtrum, flat nasal bridge, upturned nose, wide spaced teeth)
Cocktail personality
Hypercalcemia (kidney stones, cramps)
Supravalvular stenosis (and pulm stenosis)
Hypothyroidism
Von Gierke disease
Aka Glycogen storage disease type 1
Inability to use glycogen due to inability to convert G6P to glucose
Hypoglycemia during fasting, so might present as morning irritability or in a baby as meals are being spaced out
G6P gets shunted to other reactions so see increased lactate and lipids
Glycogen can build up -> organomegaly
Tx: cornstarch (constant source of glucose)
Pompe disease
Glycogen storage disease Type 2
Unable to break down glycogen in lysosomes-> lysosomal storage disorder
Lysosomal acid Maltase deficiency
Cardiomegaly
Mnemonic: pump-e or pompLAy disease (cardiac pump or Lysosomal)
Beckwith-Wiedemann syndrome
Macroglossia
Macrosomia - can be hemihypertrophy/hemihyperplasia
Microcephaly
Midline abdominal wall defects
Neonatal hypoglycemia
Increased risk of malignancy (ex Wilms tumor)
Prune belly syndrome
Cryptorchidism
Urinary tract abnormalities (can result in oligohydramnios, hydronephrosis, pulm hypoplasia)
Weak abdominal musculature
Poor prognosis
Apert syndrome
“A pear” syndrome. Autosomal dominant
Mnemonic: APE-alachian pear shaped mountains in North America (AD mnemonic)
Mnemonic: pear shaped head (craniosynostosis)
Bilateral syndactyly (fused fingers)
Choanal atresia
Alpers syndrome
aka Progressive Sclerosing Poliodystrophy
- The “Swiss Alps are nowhere near the APE-alachian mountains” so Alpers is not part of the AD mnemonic
- Autosomal recessive
- Progressive neurodegen w/ dev delay, ataxia, cognitive deficits, and seizures (like being at high altitude in the Swiss Alps)
- Liver disease
- Die by 10yo
Alport syndrome
“At Al’s Port, X marks the spot, but the blind/deaf boy still crashed his kidney-shaped boat into the dock”
X-linked dominant, affects boys more severely than girls
- Renal disease (hematuria->ESRD)
- Boys: SNHL and Eye/vision problems
Smith-Lemli-Opitz
2-3 syndactyly (look like a Y)
Ambiguous genitalia, microcephaly, cognitive impairment
Dx: elevated 7-dehydrocholesterol
Crouzon syndrome
aka Craniofacial dysostosis
Craniosynostosis (early suture closure) with prominent forehead, proptosis, cleft lip/palate
NO syndactyly
Autosomal Dominant Disorder Mnemonic
Three white-haired War (Waardenburg) generals - Mick Jagger (Peutz-Jegher), A-kon’s mini-me (Achondroplasia), and a Mexican Gardener with extra teeth (Gardner)
go Hunting (Huntington)
without a real Hunter (Hunter syndrome is X-linked)
in the Ape-alachian Pear-shaped mountains (Apert)
chanting a MANNTRRA: Marfan, Apert, Nail-patella, Noonan, Tuberous sclerosis, Retinoblastoma, Achondroplasia
Others: Acute intermittent porphyria, HOCM, vWF deficiency, myotonic dystrophy, CMT-1
Waardenburg syndrome
Autosomal dominant (WAR in the mnemonic) White forelock Albinism Blue eyes (ocular albinism) or heterochromia Deafness
Nail Patella Syndrome
Autosomal dominant (one of the N’s in MANNTRA mnemonic)
Mild-severe nail and patellar anomalies
+/- elbow or iliac anomalies
Noonan syndrome
Autosomal dominant (one of the N’s in MANNTRA mnemonic)
- Webbed neck, low set ears (similar to Turner syndrome but with normal karyotype)
- Pulmonic stenosis (pulNOONic), HOCM
- Pectus excavatum
Peutz-Jeghers syndrome
aka Hereditary Intestinal Polyposis
Autosomal dominant: “Mick Jagger” in the AD mnemonic
Benign hyperpigmented macules on the “big” lips
Hamartomatous GI polyps - tx: resection
Increased risk of various cancers
Gardner syndrome
Autosomal dominant: "Mexican gardener with extra teeth" in the AD mnemonic Premalignant polyps in the intestines - tx: resection Supernumerary teeth Other tumors (bone, etc)
Retinoblastoma
Autosomal dominant (but often sporadic), chromosome 13 Leukocoria Osteosarcoma of long bones
Retinitis pigmentosa
Multiple inheritance patterns (AD, AR, X)
Retinal dystrophy that leads to blindness
IEMs that are X-linked
- Hunters (“X marks the target” and in the AD mnemonic, the generals do not have any REAL Hunters in their group)
- Ornithine Transcarbamylase deficiency (OTC)
Autosomal recessive disorder mnemonic
WACK GAS PAT made me HURL on Scarlet JOHANSSON in the AUTOmobile during the last RECESSION
W=Wilsons
A= alpha-1-antitrypsin deficiency
C=Cystic fibrosis
K=Kartagener syndrome
G=Galactosemia
A=Alpers ("Swiss Alps")
S=Sickle cell disease and Thalassemias
P=PKU
A=Ataxia telagietctasia
T=Tay-sachs
HURL=Hurler
Scarlet JOHANSSON=Johanson-Blizzard syndrome
Other important ones: SMA Type 1,
Cystic fibrosis
Kartagener syndrome
alpha-1-antitrypsin deficiency
All are autosomal recessive. Some special features:
CF: meconium ileus. Sweat chloride >60. Burkholderia cepacia in sputum culture. All serum electrolytes are low except Bicarb-> metab alkalosis.
Kartagener: dextrocardia. Impaired cilia
alpha-1-antitrypsin deficiency: adolescent with lung and liver disease. Bullae at the base of the lungs. Ascites. Liver biopsy shows globules.
Johanson-Blizzard syndrome
Autosomal recessive
Pancreatic insufficiency
Hypoplasia/aplasia of the nostrils (blizzards cause nasal stuffiness)
Mental retardation
X-linked dominant disorders
100% of father’s daughters and ZERO sons are affected.
Can see maternal uncles affected
-Familial hypophosphatemic rickets (aka Vit D resistant rickets)
-Aicardi syndrome
-Alport syndrome
X-linked recessive disorders
Females are carriers. Males are affected.
Maternal uncles affected.
- Androgen insensitivity syndrome (pt is a “girl”)
- Chronic granulomatous disease (boy with Serratia)
- Duchenne
- G6PD deficiency
- Hemophilia A (Factor VIII deficiency, increased PTT)
- Hemophilia B (Factor IX deficiency, increased PTT)
- Hunter syndrome (X marks the target)
- Nephrogenic Diabetes Insipidus (Foxa1 deficiency)
- OTC deficiency
- Wiskott-Aldrich syndrome (TIE=tiny thrombocytopenia, Infections, Eczema)
Fragile X syndrome
Most common cause of INHERITED mental retardation
TRINUCLEOTIDE REPEAT DISORDER!!!
Large ears/jaw/testes. Long face
Mild mental retardation, social ackwardness
Trisomy 21 (Down syndrome)
Most common cause of mental retardation
- 95% due to nondisjunction (i.e. not translocation). Recurrence risk is mom’s age-risk plus 1%
- 5% due to translocation, check parental karyotypes to determine recurrence risk (21:21=100% risk, 21:14=5-15%)
Trisomy 18 (Edwards syndrome)
- Rocker bottom feet and crossed legs
- Horseshoe kidneys
- Clenched fists with overlapping fingers and hypo plastic nails
- Small jaw, prominent occiput
- Pectus excavatum
- ASD, VSD
Trisomy 13 (Patau syndrome)
- Punched out scalp lesions (Jason from Friday the 13th wore a hockey mask with punched out holes)
- Microcephaly
- Microphthalmia
- Cleft lip/palate
- Low set ears
- Polydactyly
- Cystic kidneys
- Cardiac defects
Cri-du-chat
5p deletion syndrome -High pitched "cat-like" cry -Microcephaly, dev delay -Hypertelorism -High palate -VSD Dx: FISH
Angelman syndrome
Absent maternal copy of chromo 15 gene = PATERNAL IMPRINTING. Dx: FISH
- Angelic happy child with puppet gait=ataxia (“Daddy’s little angel”)
- Seizures
Prader-Willi syndrome
Absent paternal copy of chromo 15 gene = MATERNAL imprinting. Dx: FISH
- Almond shaped eyes
- Small hands
- Small testes/phallus (“little willy”)
- Obese (“Mommy’s little fatty”)
Laurence Moon Biedl syndrome
Progressive Prader-Willi-like syndrome
Affects eyes, brain, endocrine system,
Hypospadias (L of SLOB) and hypogonadism
Klippel-Trenauny syndrome
“Cripple-T” - the T looks like a crutch, which the patient needs because of the hemihypertrophy
- AV fistulae->overgrowth of limb (hemihypertrophy)
- Port wine stain
- CHF
Klippel-Feil syndrome
Torticollis-like picture due to fused cervical vertebrae
CHARGE syndrome
C=Coloboma H=Heart defects A=Atresia (choanal) R=Retarded growth G=GU anom E=Ear anom (leading cause of congenital deaf-blindness)
VACTER/VATER/VACTER-L
V=Vertebral anomalies A=anal atresia (aka imperforate anus) C=Cardiac defects. Ex. VSD TE=TE fistula R=Renal anomalies L=Limb abnormalities (ex. radial hypoplasia)
Normal IQ
If hydrocephalus, too-> likely X-lined
Marfan syndrome
Autosomal dominant (M of MANNTRA) Superior subluxation of the lens Mitral valve prolapse High-arched palate No cognitive deficits
Homocysteinuria
Can look like Marfan syndrome plus cognitive deficits
Downward/posterior displacement of the lens
Hypercoagulable (DVT)
Dx: High urine homocysteine
Tx: B6, diet high in cysteine and low in methionine
Russell-Silver syndrome (aka Silver-Russell syndrome)
Dwarfism Clinodactyly Small chin/triangular face Hypospadias (S of SLOB) Hemihypertrophy
Fanconi syndrome
Overall dysfunction of proximal renal tubules.
- loss of protein, amino acids, glucose, Na, K, bicarb, and phos in urine
- RTA Type II (non AG metabolic acidosis)
- polyuria, polydipsia, FTT, Rickets
- Cause: varies, often due to cystinosis (dx by leukocyte cystine level)
PHACES syndrome
P = Posterior fossa malformation (Dandy Walker) H = Hemangioma (segmental on the face; strokes) A = Arterial cerebrovascular anomaly C = Cardiac anomalies (especially coarctation of the aorta) E = Eye anomalies (microphthalmia, strabismus) S = Sternal defect
Congenital melanocytic nevi syndrome
Assoc with Dandy Walker formation
Ataxia telangiectasia
Autosomal recessive (the A of PAT in the AR mnemonic) due to impaired DNA repair (ATM gene)
- High AFP levels (after ~2yo), low Ig
- Cerebellar ataxia manifests around walking age
- Then visual and motor deficits, telangiectasias, immune deficiency, cognitive deficits
- Immune: Recurrent pneumonias and sinusitis due to worsening T cell function and decreased Ig
- Increased risk of malignancy in third decade of life
Friedreich Ataxia
Autosomal recessive, GAA triplet repeat in the mitochondrial protein frataxin
Causes destruction of dentate nucleus and dorsal root ganglia -> degeneration of dorsal columns/proprioception, spinocerebellar tracts, and peripheral nerves. Corticospinal tracts are also affected.
-Ataxia manifests around time of puberty
-Assoc with diabetes mellitus, CHF from cardiomyopathy, and high planter arches (pes cavus)
Tay-Sach disease
Autosomal recessive hexosaminidase A deficiency (sphingolipidosis, lysosomal storage disease) Cherry red spot but no organomegaly Macrocephaly. Normal until 9 months. Die by age 4y.
Gaucher disease
Sphingolipidosis, lysosomal storage disease
“Groucher’s disease” - grouchy from bone pain
Hepatomegaly but no cherry red spot
Thrombocytopenia
Osteosclerosis and lytic lesions with bone pain
Short stature
Fabry disease
Sphingolipidosis, lysosomal storage disease No organomegaly, no cherry red spot Eye opacities Vascular disease of kidney, heart, brain ORANGE-colored skin lesions
Niemann-Pick disease
Sphingomyelinase deficiency (sphingolipidosis, lysosomal storage disease)
- Cherry red spot AND organomegaly (HSM)
- Sphingomyelin accumulates in macrophages of the liver and lungs
- Neurologic problems
