Frontofacionasal dysplasia
From WikiMD's Wellness Encyclopedia
Alternate names[edit | edit source]
FFND; Frontofacionasal dysostosis; Fronto-facio-nasal dysostosis; Fronto-facio-nasal dyplasia
Definition[edit | edit source]
A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
Epidemiology[edit | edit source]
Five cases have been reported so far.
Cause[edit | edit source]
The etiology remains unknown.
Inheritance[edit | edit source]
The syndrome is inherited in an autosomal recessive manner.
Signs and symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Blepharophimosis(Narrow opening between the eyelids)
- Broad forehead(Increased width of the forehead)
- Depressed nasal bridge(Depressed bridge of nose)
- Depressed nasal ridge(Flat nose)
- Facial cleft(Cleft of the face)
- Hypertelorism(Wide-set eyes)
- Midface retrusion(Decreased size of midface)
- Non-midline cleft lip
- Ptosis(Drooping upper eyelid)
- Short nose(Decreased length of nose)
- Short stature(Decreased body height)
- Telecanthus(Corners of eye widely separated)
- Upper eyelid coloboma(Cleft upper eyelid)
30%-79% of people have these symptoms
- Absent inner eyelashes
- Aplasia/Hypoplasia of the eyebrow(Absence of eyebrow)
- Bifid nasal tip(Cleft nasal tip)
- Brachycephaly*(Short and broad skull)
- Brushfield spots
- Cleft palate(Cleft roof of mouth)
- Encephalocele
- Hypoplasia of olfactory tract
- Iris coloboma(Cat eye)
- Limbal dermoid
- Preauricular skin tag
5%-29% of people have these symptoms
- Cataract(Clouding of the lens of the eye)
- Choanal atresia(Blockage of the rear opening of the nasal cavity)
- Dimple on nasal tip(Dimpled tip of nose)
- Hypoplasia of the corpus callosum(Underdevelopment of part of brain called corpus callosum)
- Microcornea(Cornea of eye less than 10mm in diameter)
- Microphthalmia(Abnormally small eyeball)
- Subcutaneous nodule(Firm lump under the skin)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Frontofacionasal dysplasia is a rare disease.
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