Syndrome Pictures Flashcards
What syndrome?
Sotos syndrome
Facial features: broad, prominent forehead,
sparse frontotemporal hair
Down slanting palpebral fissures
long face, bitemporal narrowing
Malar flushing
Macrocephaly
long chin
Other: overgrowth, hypotonia, behavioral problems, DD
What syndrome?
Cornelia De Lange; NIPBL, SMC1A, SMC3, HDAC8, RAD21
Facial features: microcephaly, synophrys, anteverted nares, arched eyebrows, heavy eyelashes
Other exam features; short stature/generalized growth restriction, upper limb reduction defects, hirsutism, developmental delay
What syndrome?
Trisomy 18
Craniofacial features: Prominent occiput, hypoplasia supraorbital ridges, low set malformed auricles, short palpebral fissures, small oral opening, narrow palatal arch, microagnathia
Other features:
- Chest: short sternum
- CVS: CHD
- Genitalia: males cryptoorchidism; females hypoplasia of labia majora with prominent clitoris
- Msk: Hypoplasia Skeletal muscle, limited abduction hips
- Hands/Feet: clenched hands with index overlapping 3rd digit, 5th overlapping 4th digit, low arch dermal ridge pattern 6/10 digits, hypoplasia of nails, Rocker-bottom feet, fleshy feet, great toe (hallux) can be dorsiflexed
- Neuro: Hypotopia (neonatal) -> hypertonia (later) weak/feeble cry, poor suck
- Skin: redundant skin (neck, hands, feet)
What syndrome?
Osteogenesis Imperfecta (Type I)
Blue sclera
Pointy chin
Dentogenesis imperfecta
Short stature with short thorax
Bowing/limb deformities
kyphosis
hyperextensible joints
What syndrome?
Achondroplasia, FGFR3
Craniofacial features: Macrocephaly, short cranial base, low nasal bridge, frontal bossing, midface hypoplasia, narrow nasal passages
Other exam findings: short limbed short stature, lumbar lordosis, gibbus, kyphosis, brachydactyly with trident hands, incomplete extension of elbow, hypotonia
What syndrome?
DiGeorge syndrome (22q11.2 deletion)
present in the majority of individuals of northern European heritage
Hooded eyelids
Tubular nose
Hypoplastic nasal alae
Decreased facial expression
Tapering digits
Palatal anomalies
Widely spaced eyes
Ear anomalies (cupped, etc)
What syndrome?
Alagille syndrome
Features may be more variable in younger children and children of non-European ancestry
Prominent forehead
Deep set eyes with moderate hypertelorism
Pointed chin/triangular facies
Saddle or straight nose with bulbous tip
Also: cardiac anomalies, choleastasis, skeletal abnormalities, eye (posterior embryotoxin), characteristic facial features, growth failure, DD
What syndrome?
Cardio-facio-cutaneous syndrome
High forehead with bitemporal constriction
Posteriorly rotated ears with thick helices
Hypertelorism with downslanting palpebral fissures
Epicanthal folds
ptosis
Depressed nasal bridge with anteverted nares
Highly arched palate
Cupid bows lips
More coarse features and more dolicocephaly than Noonan syndrome
What syndrome?
Costello syndrome
Coarse facial features
Full lips
Large mouth
Full nasal tip
Curly or sparse, fine hair
Loose, soft skin with deep palmar and plantar creases
Papillomata of the face and perianal region
Diffuse hypotonia and joint laxity with ulnar deviation of wrists and fingers
Cancer risk
What syndrome?
HHT (Hereditary Hemorrhagic Telangiectasia)
mucocutaneous telangiectases (lips, oral cavity, fingers and nose)
visceral AV malformations
What syndrome?
Fragile X (FMR1)
X-linked triplet repeat disorder (CGG repeat expansion in 5’ UTR -> hypermethylation and transcription silencing -> LOF of FMR1 protein)
Macrocephaly Long face
Large ears
Prominent forehead
Prominent jaw (adults)
Large testes
What syndrome? What is the key finding?
1p36 deletion
Horizontal eyebrows
Deep set eyes
epicanthal folds
Wide, depressed nasal brdige
long philtrum
Pointed chin
Midface retrusion
What syndrome?
Simpson-Golabi-Behmel syndrome
X-linked recessive due to mutations in GPC3
Core features: macrosomia, coarse facial features, post-axial polydactyly, macrocephaly
Can have cardiac conduction defects
What syndrome?
Clediocranial dysplasia
Autosomal dominant disorder of mutations in RUNX2
short stature, frontal bossing, wormian bones in skull, dental anomalies, clavicular defects
Clavicles can be partially to completely absent -> thorax more narrow
Increased need for c=section in affected females due to narrow pelvis
What syndrome?
Incontinentia Pigmenti
X-linked dominant due to mutations in NF-kB
Core features: irregular pigmented skin lesions, dental anomalies, patchy alopecia
1/3 have developmental delay, microcephaly or seizures
Starts out as blisters in a linear pattern on limbs and trunk in first few weeks of life -> blisters heal -> then hyperpigmentation (marble cake like) -> pigmented areas fade later in life so that adults may only have hypopigmented areas (esp on legs)
Abnormalities of the retinal vessels can be found in infants and lead to retinal ischemia and possible detachment -> need regular eye exams
Seizures in neonatal period is ominous sign for neurologic prognosis
What syndrome?
Diastrophic dysplasia
Autosomal recessive disorder due to mutations in DTDST
Core features: disproportionate short stature of prenatal onset with shortened limbs, abduction of the thumbs and great toes (“hitchhiker thumbs”), soft cystic masses in ear develop into hypertrophic cartilage (“cauliflower ear”)
Short, tubular bones
Club foot
Limitation of joints (esp elbows)
High rate (25%) of infant mortality due to respiratory problems (laryngeal stenosis, Robin sequence)
Risk of neurologic complications from cervical spine abnormalities
Club foot and scoliosis often difficult to treat
What syndrome?
Fraser syndrome
Autosomal recessive, 3 genes (FRAS1, FREM1, GRIP2)
Cryptophthalamos (present in 93%) usually b/l and associated with underlying eye defects
hair groth on lateral forehead extending to lateral eyebrow
depression of underlying frontal bone
broad nose
ear anomalies
syndactyly of hands/feet
Genitourinary defects (hypospadias, cryptorchidism)
50% have ID
What syndrome? Locus?
=Wolf-Hirschornn syndrome
4p microdeletion syndrome (4p16.3)
Greek warrior helmet appearance of the nose
Microcephaly
High forehead with prominent glabella
Ocular hypertelorism
short philtrum
down turned mouth
pre and postnatal growth deficiency
ID, seizures (respond to valproate)
CL/P
Other structural defects (CHD, CNS, renal)
What syndrome? Locus?
=Smith-Magenis syndrome (17p11.2 deletion or RAI1 sequence variants in 5-10%)
Bracycephaly, midface protrusion, prognathism and coarsening facies with age, broad, square shaped face, everted/tented vermillion, deep set eyes
hypotonia
DD/ID
hearing loss
Sleep problems
Behavior
What syndrome? What are the molecular mechanisms?
Russell-Silver syndrome
Pre and postnatal growth retardation with normal OFC
Triangular shaped facies, frontal bossing
5th finger clinodactyly, 2,3 toe syndactyly, limb asymmetry
CALMs
GU abnl (hypospadias, cryptoorchidism)
Common Mechanisms:
- Hypomethylation of paternal allele of IC1 at 11p15.5 (30-50%)
- maternal UPD ~10%
What syndrome? What locus and mechansims?
Prader Willi syndrome (15q11-13)
Neonatal hypotonia and FTT
Obesity and hyperphagia
DD/ID
short stature
brachydactyly hands/feet
Hypogonadism
Mechanisms:
3-5 Mb deletion of 15q11.2-13 (paternal)
maternal UPD 15 (15%)
Imprinting defect (remainder)
What syndrome?
Rubenstein-Taybi syndrome (CREBBP, EP300)
Microcephaly, grimacing smile, beaked nose, arched eyebrows, low hanging columella, downslanting PF)
Broad, radially deviated thumbs and broad toes
ID, growth delay, stractual defects
CREBB-binding protein (CREBBP) is ubiquitously expressed and is involved in transcriptional coactivation of many different transcription factors. It has intrinsic histone acetyltransferase activity and acts as a scaffold to stabilize additional protein interactions with the transcription complex via chromatin remodeling
interacts with SHH pathway downstream
What syndrome? How do you distinguish types 1 and 2?
Waardenburg syndrome
Hearing loss, white forelock, iris pigmentary anomalies (partial or complete heterochromia, bright blue irises)
Type 1: AD (SOX 9 mutations/deletions): dystopia canthorum (W index >1.95)
Type 2: AD (MITF or SOX10): no dystopia canthorum
