Misc conditions Flashcards
Describe the features of Simpson-Golabi-Behmel syndrome
GPC3, XL
Overgrowth, extra nipples, macroglossia, coarse
facial features, polydactyly, diaphragmatic hernia,
10% have childhood tumors such as Wilm’s tumor,
normal intelligence to severe ID
Has some overlapping features with Beckwith-
Wiedemann syndrome including overgrowth,
macroglossia, umbilical hernia, organomegaly,
and embryonal tumors.
Describe the features of diastrophic dysplasia
SLC26A2, AR
hitchhiker thumbs, cystic ear swelling, short limbs, cleft palate
Describe the features of Hypophosphatasia
ALPL, mostly AR but some AD
Hypomineralization of the bone and/or teeth
premature tooth loss
Describe the features of Denys Drash and Frasier syndrome
AD, WT1
XY have ambiguous genitalia and streak gonads
kidney dz, Wilms tumor
Describe the features of Bardet Biedl syndrome
many genes, AR
RP
obesity
polydactyly
males w hypogonadism and infertile
Describe the features of Septo-Oto-Dysplasia
- underdevelopment of the optic nerves and impaired vision
- abnormal development of the corpus callosum and neurological problems
- pituitary hypoplasia leading to hormone deficiency and genital abnormalities
Describe the features of Stickler syndrome
multiple genes, AD and AR
myopia, cataracts, retinal detachment
hearing loss
cleft palate, Pierre robin sequence
Describe the features of Usher syndrome
MYO7A, USH2A; AR
Hearing loss
RP
Describe the features of Alport syndrome
kidney dz (blood in urine), hearing loss, eye abnormalities that seldom leads to vision loss
Describe the features of nonsyndromic hearing loss and deafness
GJB2/6 (Account for 50% of ppl that fit this description), AR
Congenital, non-progressive, mild to profound SNHL
Describe the features of Pendred syndrome
SLC26A4, AR
Enlarged vestibular aqueduct-characteristic feature
severe to profound SNHL
balance issues
goiter (enlarged thyroid gland)
Describe the features of Meckel-Gruber syndrome
AR
polycystic kidneys, occipital encephalocele, polydactyly
Describe the features of orofacialdigital syndrome
OFD1, XLD (male lethal), AR
oral anomalies, dysmorphic facial features, and fused, extra short or curved fingers
Describe the features of Cockayne syndrome
ERCC6/8, AR
sensitivity to sunlight, microcephaly, short, hearing and vision loss
Describe the features of Werner syndrome
WRN, AR
rapid appearance of features associated w normal aging starting in the 20s: graying and loss of hair, hoarseness, cataracts
Describe the features of Aarskog syndrome
FGD1, XLR
Shawl scrotum, multiple congenital anomalies
Describe the features of Aicardi syndrome
unknown genetic cause, occurs almost always in females
agenesis of the corpus callosum and other brain abnormalities, seizures, eye abnormalities (coloboma, microphthalmia)
Describe the features of Alagille syndrome
JAG1, AD
Butterfly shaped vertebrae, abnormal bile ducts, heart defects
Describe the features of Coffin-Lowry
RPS6KA3, XLR
Collapse when excited or startled, soft hands w short tapered fingers, ID, DD
Describe the features of Fryns syndrome
no known genetic cause, AR
congenital diaphragmatic hernia, underdeveloped fingers (short w small/absent nails)
Describe the features of Familial dysautonomia
ELP1/IKBAP, AR
Pain insensitivity, unstable body temp and BP, absence of tears, feeding issues
high carrier frequency in AJ (1 in 30)
Describe the features of FMF
MEV, AR
Recurrent episodes of painful inflammation accompanied by fever, rash, or headache, can lead to kidney damage
higher carrier frequency in those in the Mediterranean region
Describe the features of HHT
ACVRL1, ENG, SMAD4; AD
Arteriovenous malformations (AVMs): blood typically travels from arteries to capillaries to veins. In HHT some arteries flow directly into veins
When AVMs occur near the surface of the skin, they are red and visible and called telangiectasias
Blood enters veins at higher pressure resulting in nosebleeds or hemorrhages in brain, liver, lungs or other organs
Describe the features of Holt Oram
TBX5, AD
Heart hand syndrome, think heart arm
skeletal abnormalities of the hands/arms, heart defect
Describe the features of Incontinentia Pigmenti
IKBKG, XLD (male lethal)
characteristic skin abnormalities that follow a pattern:
1. blistering rash
2. wart-like growths
3. hyperpigmentation
4. hypopigmentation
alopecia, sparse eyelashes, dental abnormalities, eye abnormalities, pitted fingernails
Describe the features associated w Kabuki syndrome
KMT2D, AD
ID, DD, seizures, microcephaly, short stature, skeletal abnormalities
Describe the features of McCune Albright
somatic, de novo AD
scar like tissue in the bones
cafe au laits w irregular borders similar to the coast of Maine
early puberty in girls, have menstrual bleeding by 2yo
excess hormone from thyroid and pituitary glands
thought that having a variant in every cell is incompatible w life
Describe the features of progeria
AD, LMNA
rapid aging, characteristic facial features, hardening of the arteries
Describe the features of Sturge weber syndrome
port wine stain
GNAQ somatic mutation
Describe the features of Rubenstein Taybi
CREBBP, EP300, AD
ID, broad thumbs and big toes, abnormalities of the eyes, heart, and kidneys
Describe the features of TAR
AR, RBMA8
thrombocytopenia w absent radius syndrome
Thrombocytopenia: prevents blood clotting due to low platelets
absent radius bone and other hand/arm anomalies
Describe the features of Spinocerebellar ataxia
Typically AD, main gene is ATXN; type 1 due to CAG trinucleotide repeats in ATXN1 and ATXN7
progressive cerebellar ataxia; uncoordinated muscle movement due to cerebellum issues; less coordination of eyes, hands, speech, shaky gait
onset @30-40s
lifespan dependent on when symptoms appear
