Syndromes Flashcards
TAR syndrome
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
Kasabach-Merritt syndrome
Skin lesions resembling hemangiomas (may be multiple or single) - consistent with hemangioendotheliomas
May lead to high output cardiac failure, DIC, thrombocytopenia
Tuberous Sclerosis
Autosomal dominant Hypopigmented ashleaf spots (Wood's lamp) Intracranial tumors Eye involvement Seizures Mental deficiency Enamel pits Cardiac rhabdomyomas
Schwachman-Diamond syndrome
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
Cystic fibrosis
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
SMA type 1 (Werdnig Hoffman)
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
Congenital myotonic dystrophy
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)
Sturge-Weber syndrome
Port wine stain, 1st division of trigeminal nerve
Tramline intracortical calcifications ipsilateral
Glaucoma, vision defects
Seizures
Hemiparesis contralateral to facial lesion
Tuberous sclerosis
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
Neurofibromatosis
Autosomal dominant, Chromosome 17
Cafe au lait
Freckling in axilla
Cutaneous neurofibromas, schwannoma, pheochromocytomas
McCune-Albright syndrome
Brown pigmentation
Fibrous dysplasia of bones
Precocious puberty
Pituitary adenomas
von Hippel-Lindau
Autosomal dominant, chromosome 3 CNS tumors (most commonly in the cerebellum) Systemic hemangiomas Retinal angiomas Pheochromocytomas
Chediak-Higashi
Abnormal neutrophil degranulation Oculocutaneous albinism Nystagmus Peripheral neuropathy Recurrent infections WBC inclusions
Reticular dysgenesis
Lymphopenia
Fatal bacterial or viral infections
Bilateral sensorineural deafness
Beckwith Weidemann
Chromosomal 11 issue, of paternal uniparental disomy Large tongue Exophthalmus Macrosomia Hypoglycemia Intrabdominal malignancies
CHARGE syndrome
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
VACTERL association
No known cause Vertebral anomalies Anal atresia Cardiac (VSD most common) TE fistula Renal anomaly Limb dysplasia
Apert syndrome/Acrocephalosyndactyly
Autosomal dominant, defect in FGF2
Increased paternal age
Irregular craniostynostosis (esp coronal)
Hypertelorism
Midfacial hypoplasia
Broad distal phalanxes of thumbs, big toes
Crouzon syndrome/Craniofacial dysostosis
Autosomal dominant, FGF2 Premature craniosynostosis Parrot beak nose Maxillary hypoplasia Shallow orbits
Osteogenesis Imperfecta
COL1A gene: can be AD or AR
Type 2 most severe, lethal because of respiratory failure
Thanatophoric dysplasia
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)
Achondroplasia
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
Stickler syndrome
Autosomal dominant FGF2 Midface hypoplasia Micrognathia Pierre Robin Sensorineural hearing loss Myopia Retinal detachment
Fragile X syndrome
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
Williams syndrome
7q11.23 gene deletion, elastin gene mutation Supravalvular subaortic stenosis Hypoplastic nails Prominent lips Stellate iris pattern Mental deficiency Transient hypercalcemia
WAGR syndrome
11p13 deletion Wilms tumor Aniridia Genitourinary abnormalities Mental deficiencies
Rubenstein-Taybi syndrome
16p13.3 deletion: CREB Cardiac anomalies Broad thumbs and toes Downward slanting palpebral fissures Postnatal growth deficiency Developmental delay Increased risk of tumors
Smith Lemli Opitz syndrome
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
Zellweger Syndrome
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
Legius syndrome
Autosomal dominant Cafe au lait macules (like NF-1) Axillary or inguinal freckling Macrocephaly Learning disabilities
Cartilage-hair hypoplasia
Autosomal-recessive, mutation of the RMRP gene on chromosome 9p13 Short-limbed dwarfism Hypotrichosis (fine, light hair) Immune deficiency Hirschsprung's
Leigh syndrome
Mitochondrial
Lowe syndrome
X-linked, OCRL gene Oculocerebrorenal syndrome Congenital cataracts Hypotonia Renal failure Severe intellectual impairment
Cornelia de Lange
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
Trisomy 8
Deep creases
Thick lips
Camptodactyly
Prominent cupped ears
Cri du chat
5p deletion (paternal origin) Downward slant of palpebral fissures Severe mental deficiency Cat like cry FTT
Wolf Hirschhorn
4p deletion Greek warrior helmet Hypertelorism Broad or beaked nose Cranial asymmetry
