Term
|
Definition
- craniosynostosis
- syndactyly
- cleft palate
- midface hypoplasia
- proptosis
- cognitive impairment
- Conductive hearing loss
- down slanting palpebral fissures
- hypertelorism
- AS dominant |
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Term
|
Definition
similar to apert syndrome, but:
- no syndactyly
- no cognitive involvement |
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Term
|
Definition
- craniosynostosis
- occular proptosis
- underdevelopment of the midface
- broad, short thumbs and big toes
- possible webbing of the hands and feet
- changes in the gene (chromosomes 8 and 10) |
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Term
|
Definition
| Square face with broad, prominent forehead, arched eyebrows, large eyes, occasional ptosis, prominent nasal bridge with square root, thick nostrils, prominent nasal columella, flat midface, small mouth, occasional small chin, larger chin with age, facial asymmetry even without facial palsy. |
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Term
|
Definition
- short stature
- cognitive impairment
- microcephaly
- synophrys
- hirsutism
- short limbs
- possible phomelia
- SN hearing loss in about 50%
- chromosomal (not a single gene) |
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Term
| Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome (EEC) |
|
Definition
- cleft palate and/or lip
- ectrodactyly
- sparse hair
- de-pigmented skin
- less than normal # of teeth
- photophobia
- AS dominant
- can run in families |
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Term
|
Definition
- cognitive impairment
- low birth weight
- microcephaly
- short palpebral fissures
- heart anomalies
- short nose
- cleft palate (sometimes lip)
- digital anomalies
- cause: intake of alcohol during pregnancy |
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Term
|
Definition
X-linked mental retardation
- the most common cause of inherited cognitive impairment
- short stature
- long narrow face
- prominent ears
- macro-orchidism |
|
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Term
|
Definition
- severe micrognathia
- cleft palate
- absent or hypoplastic thumbs
- external and middle ear problems
- lack or absence of lower eye lashes
- downslanting palpebral fissures
- AS Recessive |
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|
Term
| Occulo-auricular-vertebral spectra (Goldenhar) |
|
Definition
- hemifacial microsomia-facial asymmetry
- facial asymmetry due to hypoplastic mandibular ramus
- C hearing loss
- preauricular tags
- possible lateral cleft
- vertibral dysplasia
- unknown origin
- lump in the eye |
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Term
| Oral Facial Digital (OFD II, Mohr) |
|
Definition
- short stature
- midline cleft of the lip
- cleft palate
- lobed tongue
- polydactyly
- partial reduplication of the halluces
- conductive hearing loss
- AS recessive |
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|
Term
| Oto-palato-digital syndrome |
|
Definition
- prominent superior orbital ridge
- hypertelorism
- downslanting palpebral fissures
- cognitive deficiency
- cleft palate
- Robin sequence
- widely spaced cured digits
- Conductive HL
- x-linked |
|
|
Term
|
Definition
- mandibular hypoplasia
- glossoptosis
- U shaped cleft of the palate |
|
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Term
|
Definition
- Robin Sequence
- cleft palate
- severe myopia formation
- retinal detachment or cataracts
- arthropathy
- midface hypoplasia
- long thin extrimities with prominent joints
- C or SN hearing loss
- AS dominant
- disrupted collagen |
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Term
| Treacher Collins Syndrome |
|
Definition
- micrognathia
- absent or hypoplastic zygomas
- cleft palate
- microtia
- ossicular malformation
- choanal atresia
- downslanting palpebral fissures
- coloboma lower eye lid
- pre-auricular tags
- AS Dominant |
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Term
|
Definition
- lip pits
- possible cleft palate
- AS dominant |
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Term
| Velo-Cardio-Facial Syndrome |
|
Definition
- cleft palate
- heart anomalies
- long nose with bulbous tip
- allergic shiners
- small ears with overfolded helices
- learning disabilities
- ADHD
- possible kidney anomalies
- psychiatric problems in adulthood
- AS dominant |
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Term
|
Definition
- hearing loss
- depigmented skin
- poliosis
- heterochromia irides
- cleft palate
- AS dominant |
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