Syndromes with CLP


Terms in this set (...)

Walker-Warburg Syndrome
Type 2 Lissencephaly, polymicrogyria, ventriculomegaly, anterior chamber malformations (coloboma, cataracts, Peter's anomaly), CLP, GU anomalies in males, severe MR, Lethal
CLP, posterior embryotoxin, conotruncal heart defects, hypOcalcemia in infancy, psych d/o's, midface hypoplasia, thymic hypoplasia
Cranio-Frontonasal Dysplasia (EFNB1)
MR in some, CLP, microhthalmia, Widow's peak, bifid nose, Deaf, dkin lipomas
Oral-Facial-Digital Syndrome
oral frenula, CLP, digital asymmetry, bifid tongue, duplicated halux, hypodontia, ectro/syndactyly, polycystic kidney
Branchio-Oculo-Facial Syndrome
some MR, IUGR, FTT, sinus-fistulous tracts, aplasia cutis, scarring, hemangiomas, lacrimal duct obstruction, coloboma, microphthalmia, up-slanted PF's, Deaf, premature greying
Hay-Wells of Ectodermal Dysplasia aka AEC syndrome
AEC- ankyloblepharon-ectodermal dysplasia-clefting syndrome, alopecia, Deaf, CLP
Jeune's Dysplasia aka asphyxiating thoracic dysplasia
small thorax, short limbs, hypoplastic iliac wings, pulm hypoplasia, nephropathy, retinal detachment, small/bell-shaped thorax, short ribs, flared iliac wings
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
ectrodactyly, ectodermal dysplasia, CLP, fair and thin skin, sparse thin wiry hair, hypodontia
Fryns Syndrome
CDH, coarse facies, distal digital hypoplasia, CLP, VSD, GU anomalies, cystic hygroma, Lethal
Treacher-Collins Syndrome
malar hypoplasia, down-slanted PF's, lower-lid defects, malformation of external ear, CLP
Stickler Syndrome
flat facies, myopia, spondyloepiphyseal dysplasia, joint pain, Pierre-Robin sequence (sometimes with cleft palate), retinal detachment
Diamond-Blackfan Anemia
macrocytic anemia B4 age 1 yr, cataracts, webbed neck, CLP, short neck, bifid hypoplastic thumbs, VSD, ASD, microcephaly, ptosis, broad/flat nasal bridge, small/low-set ears
Campomelic Dysplasia
small thorax, short limbs, hypoplastic iliac wings, Stickler facies, Pierre-Robin sequence, CLP, sex reversal XY males with female phenotype
Goltz Syndrome
Poikiloderma, focal dermal hypoplasia, syndactyly, dental anomalies, fat herniation of antecu and popliteal fossae, hypopigmented skin that follows the lines of Blashko, CLP
Rapp-Hodgkin Ectodermal Dysplasia
Hypohydrosis, CLP, dysplastic nails, hypodontia, thin skin, minimal sweat pores, sparse but nappy hair
Kneist Dysplasia
flat facies, thick joints, platyspondyly, cleft palate, short-barrel shaped chest, prominent eyes, myopia--retinal detachment
Kabuki Syndrome
resemble Kabuki Japanese performers, FTT, MR, long palpebral fissures w/ eversion of lateral portion of lower lid, arch brow, epicanthal folds, large, protruding ears, tented upper lip, cleft palate
Meckel-Gruber Syndrome
occipital encephalomeningocele, microcephaly, dysplastic kidneys, cleft palate, polydactyly, clubbed foot
Popliteal Pterygium Syndrome
popliteal web, cleft palate, lower lip pits, thin upper lip, Ankyloblepharon, Pyramidal skin on hallux
Oral-Facial-Digital Syndrome Type 2 aka Mohr Syndrome
cleft tongue, Deaf, partial reduplication of hallux, CLP, frenula hypertrophy, normal intellect
Robert's SC Phocomelia aka pseudothalidomide syndrome
Hypomelia, midfacial defect, severe IUGR, microcephaly, MR, CLP, mid-facial hemeangioma (glabella), shallow orbits and prominent eyes, bluish sclerae, silvery blod hair, absent radius&fibula
Short Rib Polydactyly Type 2 aka Mejewski Type
Short stature, short limbs, CLP, short/flat nose, smal-low-set ears, oval-shaped tibae, glomerular cysts in kidneys, Lethal, worse form of OFD syndrome
Van der Woude Syndrome
lower lip pits, CLP, missing second premolars, hypodontia
Smith-Lemli-Optiz Syndrome
MR, hypOtonia, ambiguous genetalia, m.c. cause of metabolic autism!, microcephaly, ptosis, 2-3 toe syndactyly, cataracts, cleft PALATE
Simpson Golabi Behmel Syndrome
macrostomia, macroglossia, macrocephaly, mild MR, groove in lower lip, CLP, Wilm's tumor