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Neo Board Review > Syndromes > Flashcards

Syndromes Flashcards

1
Q

TAR syndrome

A

Thrombocytopenia with absent radii
Autosomal recessive
Severe thrombocytopenia (absent/reduced megakaryocytes)
B/L absent radii and ulnar abnormalities- thumbs and digits are normally developed
Can have cardiac anomalies and facial capillary hemangioma
Has gradual increase in platelet count, leading cause of death ICH

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2
Q

Kasabach-Merritt syndrome

A

Skin lesions resembling hemangiomas (may be multiple or single) - consistent with hemangioendotheliomas
May lead to high output cardiac failure, DIC, thrombocytopenia

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3
Q

Tuberous Sclerosis

A 
Autosomal dominant
Hypopigmented ashleaf spots (Wood's lamp)
Intracranial tumors
Eye involvement
Seizures
Mental deficiency
Enamel pits
Cardiac rhabdomyomas
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4
Q

Schwachman-Diamond syndrome

A 
Autosomal recessive, chromosome 7
Pancreatic insufficiency - malabsorption
Short stature
Bone marrow dysfunction (neutropenia is most common)
Diarrhea
Normal bicarb
Negative sweat test
Increased risk of myelodysplastic syndromes, leukemia

Rx: pancreatic enzymes, Vit A, D, E, K, increased calories and GCSF

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5
Q

Cystic fibrosis

A 
Mutation in 508, chromosome 7
Abnormality in protein used for chloride transport (CFTR)
Vit K malabsorption
Diarrhea
Rectal prolapse
Nasal polyps
Increase chloride in sweat, >50
Need to confirm an increased IRT with mutational analysis
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6
Q

SMA type 1 (Werdnig Hoffman)

A 
Autosomal recessive, chromosome 5
Degeneration of anterior horn cell
Generalized hypotonia
Frog leg and jug handle position
Bulbar weakness, facial sparing
Death <2 years
Muscle biopsy with motor unit atrophy
Normal nerve conduction velocity
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7
Q

Congenital myotonic dystrophy

A

Autosomal dominant, chromosome 19
Expanded CTG repeat (triple repeats) -> dysfunctional sodium and potassium channels
Severity increases with increasing number of repeats
Inherited from mother
Abnormal muscle biopsy (small and round muscle fibers with large nuclei and sparse myofibrils)

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8
Q

Sturge-Weber syndrome

A

Port wine stain, 1st division of trigeminal nerve
Tramline intracortical calcifications ipsilateral
Glaucoma, vision defects
Seizures
Hemiparesis contralateral to facial lesion

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9
Q

Tuberous sclerosis

A 
Autosomal dominant (chromosome 9, 16)
Hypopigmented ash leaf spots (Wood's lamp), greatest on trunk and buttocks
CNS tumors
Cardiac rhabdomyomas
Seizures
Enamel pits in teeth
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10
Q

Neurofibromatosis

A

Autosomal dominant, Chromosome 17
Cafe au lait
Freckling in axilla
Cutaneous neurofibromas, schwannoma, pheochromocytomas

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11
Q

McCune-Albright syndrome

A

Brown pigmentation
Fibrous dysplasia of bones
Precocious puberty
Pituitary adenomas

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12
Q

von Hippel-Lindau

A 
Autosomal dominant, chromosome 3
CNS tumors (most commonly in the cerebellum)
Systemic hemangiomas
Retinal angiomas
Pheochromocytomas
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13
Q

Chediak-Higashi

A 
Abnormal neutrophil degranulation
Oculocutaneous albinism
Nystagmus
Peripheral neuropathy
Recurrent infections
WBC inclusions
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14
Q

Reticular dysgenesis

A

Lymphopenia
Fatal bacterial or viral infections
Bilateral sensorineural deafness

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15
Q

Beckwith Weidemann

A 
Chromosomal 11 issue, of paternal uniparental disomy
Large tongue
Exophthalmus
Macrosomia
Hypoglycemia
Intrabdominal malignancies
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16
Q

CHARGE syndrome

A 
Autosomal dominant CHD 7 (but may also not be detected)
Coloboma (major)
Heart defect
Choanal Atresia (major)
Renal anomalies, growth Restriction
Genital hypoplasia
Ear abnormalities (major)

Risk for motor delays, hypotonia, visual and vestibular abnormalities

17
Q

VACTERL association

A 
No known cause
Vertebral anomalies
Anal atresia
Cardiac (VSD most common)
TE fistula
Renal anomaly
Limb dysplasia
18
Q

Apert syndrome/Acrocephalosyndactyly

A

Autosomal dominant, defect in FGF2
Increased paternal age
Irregular craniostynostosis (esp coronal)
Hypertelorism
Midfacial hypoplasia
Broad distal phalanxes of thumbs, big toes

19
Q

Crouzon syndrome/Craniofacial dysostosis

A 
Autosomal dominant, FGF2
Premature craniosynostosis
Parrot beak nose
Maxillary hypoplasia
Shallow orbits
20
Q

Osteogenesis Imperfecta

A

COL1A gene: can be AD or AR

Type 2 most severe, lethal because of respiratory failure

21
Q

Thanatophoric dysplasia

A 
Autosomal dominant, FGF3
Severe, death from respiratory failure
Narrow thorax, hypoplastic lung
Short limbs
Depressed nasal bridge
Telephone receiver long bones (type 1)
Cloverleaf skull (type 2)
22
Q

Achondroplasia

A

Autosomal dominant, FGF3
Short limbs, normal trunk
Trident hand
Cone shaped phalanges
Decreasing distance between vertebra seen on AP spine XR
Live until adulthood, normal intelligence

23
Q

Stickler syndrome

A 
Autosomal dominant FGF2
Midface hypoplasia
Micrognathia
Pierre Robin
Sensorineural hearing loss
Myopia
Retinal detachment
24
Q

Fragile X syndrome

A

X linked dominant
Loss of function mutation due to expansion of CGG repeats
50-200 premutations -> women with premature ovarian failure

Long narrow face, prominent forehead
Macrocephaly
Large ears
Large testes

25
Q

Williams syndrome

A 
7q11.23 gene deletion, elastin gene mutation
Supravalvular subaortic stenosis
Hypoplastic nails
Prominent lips
Stellate iris pattern
Mental deficiency
Transient hypercalcemia
26
Q

WAGR syndrome

A 
11p13 deletion
Wilms tumor
Aniridia
Genitourinary abnormalities
Mental deficiencies
27
Q

Rubenstein-Taybi syndrome

A 
16p13.3 deletion: CREB
Cardiac anomalies
Broad thumbs and toes
Downward slanting palpebral fissures
Postnatal growth deficiency
Developmental delay
Increased risk of tumors
28
Q

Smith Lemli Opitz syndrome

A 
Autosomal recessive
Defect in cholesterol synthesis: low cholesterol, high 7-dehydrocholesterol
2nd and 3rd toe syndactyly
Anteverted nostrils
Genital anomlies (failure of masculinization)
Mental deficiency
FTT
High mortality
29
Q

Zellweger Syndrome

A 
Autosomal recessive, defects in PEX genes
Peroxisomal biogenesis disorder: accumulation of VLCFA
Postnatal growth deficiency
Issues with brain development
Large fontanels, flat occiput
Anteverted nares
Congenital cataracts
Albuminuria
Equinovarus deformity
30
Q

Legius syndrome

A 
Autosomal dominant
Cafe au lait macules (like NF-1)
Axillary or inguinal freckling
Macrocephaly
Learning disabilities
31
Q

Cartilage-hair hypoplasia

A 
Autosomal-recessive, mutation of the RMRP gene on chromosome 9p13
Short-limbed dwarfism
Hypotrichosis (fine, light hair)
Immune deficiency
Hirschsprung's
32
Q

Leigh syndrome

A

Mitochondrial

33
Q

Lowe syndrome

A 
X-linked, OCRL gene
Oculocerebrorenal syndrome
Congenital cataracts
Hypotonia
Renal failure
Severe intellectual impairment
34
Q

Cornelia de Lange

A 
Single nucleotide mutation in a gene coding for a protein in the cohesin pathway
Very high incidence of severe gastroesophageal reflux disease and malrotation with the potential for volvulus
Microcephaly
Hypertonicity
Curly long lashes
Synophrys
High arched palate
Hirsuitism
Limb abnormalities
35
Q

Trisomy 8

A

Deep creases
Thick lips
Camptodactyly
Prominent cupped ears

36
Q

Cri du chat

A 
5p deletion (paternal origin)
Downward slant of palpebral fissures
Severe mental deficiency
Cat like cry
FTT
37
Q

Wolf Hirschhorn

A 
4p deletion 
Greek warrior helmet 
Hypertelorism
Broad or beaked nose
Cranial asymmetry

Neo Board Review (16 decks)

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