Frontofacionasal dysplasia

Alternate names

FFND; Frontofacionasal dysostosis; Fronto-facio-nasal dysostosis; Fronto-facio-nasal dyplasia

Definition

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

Five cases have been reported so far.

Cause

The etiology remains unknown.

Inheritance

Autosomal recessive inheritance, a 25% chance

The syndrome is inherited in an autosomal recessive manner.

Signs and symptoms

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)

NIH genetic and rare disease info

• NIH info on Frontofacionasal dysplasia

Frontofacionasal dysplasia is a rare disease.

This article is a stub. You can help WikiMD by registering to expand it. Editing is available only to registered and verified users. WikiMD is a comprehensive, free health & wellness encyclopedia.