Turricephaly
Trigonocephaly
Brachycephaly
Plagiocephaly
Neck webbing
Underdeveloped and prominent antitragus
Degree of development of the crus helix
antihelix
Underdeveloped and prominent tragus
Macrotia - increase in length and width of the pinna
Preauricular tag
Preauricular pit
Quelprud nodule
Cryptotia
Cupped ear
Satyr ear
Ablepharon
Ankyloblepharon
Blepharophimosis
Cryptophthalmos
Epiblepharon
Entropion: a condition in which your eyelid, usually the lower one, is turned inward so that your eyelashes rub against your eyeball, causing discomfort.
Ectropion: is a condition in which your eyelid turns outward
Epicanthus
Lagophthalmos: incomplete or abnormal closure of the eyelids
Synophrys
Thin vermilion of upper lip
Ankyloglossia: condition present at birth that restricts the tongue's range of motion.
Diastema
Microdontia
Macrodontia
Beighton score
—> joint laxity
Camptodactyly: bent finger that they cannot completely straighten
Clinodactyly: finger that curves to one side
Single
transverse
palmar
crease
Sydney
Mesoaxial
polydactyly
Preaxial
Partial cutaneous
syndactyly
Blaschko lines
lines of normal cell development in the skin.
Turner syndrome
Trisomy 18 (Edwards syndrome)
Microdeletion syndromes
Angelman (del15q11.2-q13)
Prader-Willi (del15q11.2-q13)
Imprinting disorders
Uniparental disomy
Uniparental disomy leads to an abnormal phenotype if:
The chromosome involved has imprinted gene(s)
Results in homozygosity for a pathogenic variant resulting in an autosomal recessive condition
Diseases that may involve imprinting-related mechanisms
Chromosomal instability syndromes
Fanconi anemia
Bloom syndrome
Bloom syndrome: clinical features
Bloom syndrome: evaluation + management
Ataxia-telangiectasia
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