Syndromes Flashcards
Sturge-Weber
Facial capillary malformations (port-wine stain) in trigeminal nerve pattern; can have seizure disorder
Kasabach-Merritt
Hemangioma or diffuse hemangiomatosis, profound thrombocytopenia; can present with petechiae, ecchymosis, and bleeding
Tx: vincristine or rapamycin
Maffucci syndrome
venous malformations and multiple enchondromas; can be associated with malignant chondrosarcomas and intracranial tumors
Parks-Weber
variant of Klippel-Trenaunay syndrome; also has A-V fistulae
Klippel-trenaunay
patchy post-wine stains of the lower extremity with lymphatic/venous malformation and hypertrophy
Osler-Weber-Rendu
hereditary hemorrhagic telangiectasia on the face, tongue, lips, nasal, and oral mmucosa, conjunctiva, and hands/nails. Autosomal dominant; may present late in life
Parry-Romberg
progressive hemifacial atrophy - progressive shrinkage and degeneration of tissues beneath the skin on one side of the face. May also have a patch of scleroderma in the scalp extending down through the mid-face AKA “Coup de sabre”
Apert
Craniosynostosis, cleft palate, syndactyly
Treacher Collins
mandibulofacial dysostosis, fist and second branchial arch syndrome - lower eyelid colobomas, clefted and hypoplastic zygomas, clefted lateral orbita, hypoplastic mandible, lateral canthal vertical dystopia, antimogolian palpebral fissues, ear deformities, long anterior sideburns, anterior open bite, cleft palate, and macrostomia
Freansceschetti-Zwahlen-Klein
AKA treacher collins
Coup de sabre
Parry-Romberg
Treatment for Parry- Romberg
When changes stabilize:
- parascapular free flap
- if onset is when they are young, there may be skeletal changes
- if facial paralysis: cross-facial nerve grafting followed by micro gracilis flap
Mobius syndrome
Cranial nerve 7 and 6
- tx with muscle microneurovascular transfer
- # 1 nerve option: masseter
- less desireable nerve options: hypoglossal (because of tongue function), spinal accessory (trapezius)
Main gene abnormalities seen in craniosynostosis
FGFR2 mutation (Apert, Crouzon syndrome, Pfeiffer syndrome, ) FGFR3 mutation (Muenke syndrome) TWIST1 mutation (Saethre-Chotzen syndrome) EFNB1 mutation (Craniofrontalnasal dysplasia)
Deformational plagiocephaly vs. craniosynostosis?
The side of the head that is flat on the back will have protrusion of the forehead and the ear will move forward on that side. - initially treated with changing the baby’s positioning and avoiding pressure on the head on the flattened side. helmet therapy may be prescribed.
-ipsi mastoid bulging is lamboid CS
CREST syndrome
Calcinosis Raynaud syndrome Esophageal dysmotility Sclerodactyly Telangiectasia
Amyloidosis
thickening and stiffness of the skin
Deramtomyositis
idiopathic inflammatory myopathy with skin and muscle abnormalities. May have rashes of the upper eyelids, hands, and in the shawl distribution; skin is not thickened
SLE
butterfly rash, erythematous plaques (discoid lesions);
ulcers; can also be hypercoagulable (antibodies against platelet membrane phospholipids, increasing platelet aggregation)
Poland syndrome
due to hypoplasia of subclavian artery from kinking during week 6 of gestation; absence of sternal head of pec major, absence of costal cartilages, hypoplasia or aplasia of breast, deficiency of subcut fat and axillary hair, syndactyly
Mayer-Rokitansky-Kuster-Hauser syndrome
Vaginal agenesis- caused by defect in paramesonephric duct development or fusion of urogenital sinus with paramesonephric duct
Kasabach-Merritt syndrome
Kaposiform hemangioendothelioma with profound thrombocytopenia. Tx with vincristine
Maffucci’s syndrome
enchondromatosis with multiple hemangiomas
von Hippel-Lindau disease
hemangiomas of the retina, cerebellum, cysts in abdomen,
- seizure and mental retardation
PHACE syndrome
Large facial hemangiomas associated with: Posterior fossa malformations Hemangiomas Arterial anomalies Coarctation of the aorta Eye abnormalities
Epithelioid hemangioma
rare tumor with borderline malignant potential
Sturge-Weber syndrome
large facial port-wine stain with V1 and V2 distribution
leptomeningeal venous malformations, seizures, and mental retardation
Klippel-Trenaunay syndrome
patechy post-wine stain on extremity overlying deeper venous and lymphatic malformation with associated skeletal hypertrophy
Parkes-Weber
similar to Klippel-Trenaunay but has AV fistulas
Bannayan-Zonana syndrome
macrocephaly, multiple lipomas, and hemangiomas
Riley-Smith syndrome
pseudopapilledema, microcephaly, vascular malformations
Blue rubber bleb nevus syndrome
similar to klippel -trenaunay but with AV fistula
Osler-Weber-Rendu
AKA hereditary hemorrhagic telangiectasia - multiple malformed ecstatic vessels in the skin, mucous membranes, viscera
Cobb syndrome
port-wine stain on posterior thorax + underlying spinal cord vascular malformation (AVM)
Muir-Torre syndrome
AD, onset 50-70, multiple skin tumors (keratoacanthoma, BCC, SCC, adenocarcinoma) also malignancies of colon, ovaries, kidney, bladder, pancreas, and breast.
Holt-Oram syndrome
AD, septal defectcs, tetralogy of Fallot, mitral valve, radial longitudinal deficiency
VACTERL
vertebral, anal, cardiac, trachoEsophageal, renal, Radial longitudinal deficiency, Lower extremity abdnormaities
TAR
thrombocytopenia absent radius syndrome
Fanconi anemia
AD, radial longitudinal deficiency
Hemifacial microsomia
2nd most common craniofacial malformation
Chromosome 8q13 abnormality
defect of 1st and 2nd branchial arches
Goldenhar syndrome
oculoauriculovertebral spectrum
MUST HAVE UPPER EYELID COLOBOMAS
hemifacial microsomia + colobomas upper eyelids, epibulbar dermoids, vertebral/rib abnormalities
Frontal bossing, low hairline, low-set ears
Albright syndrome (Albright-McCune-Sternberg)
AD hypocalcemia, hyperphosphatemia, hyperthyroidism, sexual prococity Cataracts, low nasal bridge, short neck short fingers (like a carnie) Cafe au lait spots May have fibrous dysplasia
Fibrous dysplasia
McCune Albright
premalignant = osteosarcoma
Carpenter syndrome
AR
polysyndactyly affect hands and feet
Bicoronal synostosis, brachysyndactyly, preaxial polydactyly, congenital heart disease, hypogonadism, obesity, umbilical hernia
Syndromes associated with cleft palate
velocardiofacial syndrome (MC) hemifacial microsomia pierre robin nager stickler's Down's Van der Woude's Waardenburg Apert's Klippel-Feil Fetal alcohol DiGeorge Aplasia Cutis Congenita
Nager
similar to treacher collins but also with hand anomalies, +Cleft palate, not as often with colobomas,
Waardenburg Syndrome
AD
Cleft lip/palate, partchy absence of hair pigmentation, deafness
Down’s syndrome
brachycephaly, cleft palate, midface hypoplasia, hypotonia
Van der Woude’s syndrome
AD, variable penetrance
Cleft lip/palate and lower lip pits
2nd molars absent
syndactyly, abnormal genitalia
Parsonage-Turner syndrome
bialateral AIN palsy, partial or complete paralysis of the arm
IRF6
van der Woude
Trisomy 13
Patau syndrome (cleft palate, rocker bottom feet)
FGFR1
Kallmann syndrome (hypogonadotrophic hypogonadism with anosmia, cleft lip and/or palate, renal aplasia/agenesis, dental defects)
PTCH1
Gorlin syndrome
22q11.2
DiGeorge syndrome, velocardiofacial syndrome
CATCH
(cardiac, abnormal facies, thymic aplasia, cleft palate, hypocalcemia/hypoparathyroidism) - DiGeorge
bilateral preauricular pits and small ears
- Branchio-oto-renal syndrome (AD)
- also can be oculo-auriculo-vertebral spectrum
CHARGE
coloboma, heart defect, atresia of nasal choanae, retardation of growth or development, genital or GU abnormalities, deafness;
2nd most common syndrome associated with cleft lip/palate (CHD7)
Antley-Bixler syndrome
FGFR related,
craniosynostosis, choanal atresia, radiohumeral synostosis
Ramsey-Hunt
herpez zoster oticus, affects facial nerve. Tx with steroid, narcotics, and acyclovir
Beckwith-Wiedemann syndrome
defect for chromosome 11
- macrosomia, omphalocele, macroglossia, auricular abnormalities with ear folds
Diabetic fetopathy
macrosomia, nephromegaly, hepatomegaly
Chromosome 1
van der woude
Chromosome 11p15
Beckwith-Wiedemann
Adams-Oliver syndrome
has cutis aplasia as part of the syndrome
