Frontofacionasal Dysplasia

Description

The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissues, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).

Clinical Features

Gollop (1981) suggested that a disorder observed in a brother and sister whose parents were first cousins once removed represented a 'new' autosomal recessive disorder, which he called frontofacionasal dysostosis. The girl showed brachycephaly, bilateral blepharophimosis and ptosis, S-shaped palpebral fissures, bilateral lower lid lagophthalmos ('hare eye'; inability to close the eye completely), limbic dermoid of the left eye, coloboma of the upper lid, bilateral cleft lip and palate, deformed nostrils, and severe midface hypoplasia. The brother had, in addition, prefrontal lipomata, cranium bifidum occultum, and ankyloblepharon filiforme on the right.

Gollop et al. (1984) reported a 2-month-old girl whose parents were first cousins. Features were encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate, and uvula.

White et al. (1991) reported a fourth case of this disorder.

Reardon et al. (1994) described a child with a severe form of FFND whose features were similar to those in the 2 sibs reported by Gollop (1981).

Suthers et al. (1997) reported a male child with FFND, the offspring of healthy unrelated parents. The authors suggested that the key distinguishing features of the disorder are S-shaped palpebral fissures, eyelid coloboma, epibulbar dermoid, microphthalmia, and coloboma of iris or optic disc.

Ozkinay et al. (2000) reported 2 sisters, born of second-cousin parents, with typical features of FFND, including blepharophimosis, lagophthalmos, primary telecanthus, midface hypoplasia, nasal dysplasia, defect of alae nasi, bifid nose, microphthalmia, S-shaped palpebral fissures, brachycephaly, and cranium bifidum. In addition, both sisters had intracranial abnormalities, one had spina bifida, and the other had umbilical hernia.