Term
problems involving breathing, feeding, ear infections, hearing loss (conductive), speech and language delay, dental problems
autosomal dominant and multifactorial genetics
Asians, Americana Indians, males at greater risk |
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Definition
cleft lip/palate
plates fail to fuse between wk 6-11 |
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Term
happens in 1/600 births
cxc by hpyotonia, increased flexibility, small head, low set ears, upward slanting eyes, small wide hands |
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Definition
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Term
what are epicanthal folds and brushfield's spots
which congenital syndrome are they often seen in |
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Definition
epicanthal folds: small skinfolds on corners of eyes
Brushfield's spots: light spots on irises of eyes
Down Syndrome
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Term
| incidence of cleft lip/palate |
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Definition
1/5000 births
lip and palate (50%)
palate (30%)
lip (20%) |
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Term
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Definition
single crease across palms
often seen in hands of Down Syndrome |
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Term
syndrome caused by a gene mutation during fetal development,
involved in production of three different types of collagen, which impedes the development of collagen
what is the syndrome and what is the presentation |
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Definition
Stickler Syndrome (1/8000)
sensorineural hearing loss that worsens with age
joint pain/arthritis
lax joints
scoliosis
cleft palate
mitral valve prolapse
cataracts
flat face |
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Term
syndrome with sporadic autosomal dominant inheritance
caused by abnormal development off the 1 and 2 branchial arches on one side of the face |
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Definition
| Goldenhar syndrome (Oculoauicular Dysplasia or OAV) |
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Term
| Goldenhar syndrome presentation |
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Definition
-facial hypoplasia
-hypoplasia of pinna and middle ear
-conductive hearing impairment
-preauricular pits or tags
-congenital heart disease (tetralogy of Fallot and VSD) |
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Term
| at what age can you begin to correct the jaw and pinna of pt with Goldenhar syndrome |
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Definition
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Term
mutation of the gene that affects type IV collagen family of proteins
males affected more than females (80% X-linked, 20% autosomal dominant or recessive) |
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Definition
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Term
| findings and presentation of Alport's |
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Definition
-nephritis
-micro hematuria
-kidney failure by teens in X-linked and recessive
-sensorineural hearing loss that develops by late childhood
main problem is trying to maintain kidney function |
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Term
syndrome caused by alteration of chromosome 5
inherited by autosomal dominant pattern w/ 60% new mutations |
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Definition
| Treacher Collins syndrome |
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Term
Treacher Collins syndrome is cxc by an absence of which protein?
what is the role of that protein? |
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Definition
Treacle protein
- role in neural crest cell migration |
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Term
| presentation of Treacher Collins syndrome |
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Definition
-hypoplasia of zygoma and mandible
-mallformed ears causing conductive HL
-notching of lower eyelids
-cleft palate |
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Term
pt with this syndrome usually of normal intelligence
they can outgrow problems of syndrome with proper early nutrition, sx, and education |
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Definition
| Treacher Collins syndrome |
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