Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
Fronto-nasal dysplasia or the median cleft face syndrome is characterized by marked hypertelorism in conjunction with a broad nasal tip which is frequently bifid. It is usually sporadic but familial cases have been reported. Bifid nose without hypertelorism has also been reported. Bifid nose can also be a feature of many other syndromes.
The syndrome of bifid nose, renal agenesis, and anorectal malformations could have a genetic origin since the only family described with this syndrome was consanguineous.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 608980.1.1 | Egypt | Female | Yes | Yes | Bifid nasal tip; Broad nasal tip; Ante... Bifid nasal tip; Broad nasal tip; Anteriorly placed anus; Anal stenosis; Unilateral renal agenesis; Hypoplastic fifth toenail  | NM_144966.5:c.2722del | Homozygous | Autosomal, Recessive | Al-Gazali et al. 2002; Alazami et al. 2009 | |
| 608980.1.2 | Egypt | Male | Yes | Yes | Bifid nasal tip; Broad nasal tip; An... Bifid nasal tip; Broad nasal tip; Anteriorly placed anus; Anal stenosis; Unilateral renal agenesis; Hypoplastic fifth toenail | NM_144966.5:c.2722del | Homozygous | Autosomal, Recessive | Al-Gazali et al. 2002; Alazami et al. 2009 | Sibling of 608980.1.... |
| 608980.1.3 | Egypt | Female | Yes | Yes | Bifid nasal tip; Broad nasal tip; An... Bifid nasal tip; Broad nasal tip; Anteriorly placed anus; Anal stenosis; Rectovaginal fistula; Unilateral renal agenesis; Hypoplastic fifth toenail | NM_144966.5:c.2722del | Homozygous | Autosomal, Recessive | Al-Gazali et al. 2002; Alazami et al. 2009 | |
| 608980.1.4 | Egypt | Male | Yes | Yes | Oligohydramnios; Bifid nasal tip; Broa... Oligohydramnios; Bifid nasal tip; Broad nasal tip; Bilateral renal agenesis; Talipes; Neonatal death | NM_144966.5:c.2722del | Homozygous | Autosomal, Recessive | Al-Gazali et al. 2002; Alazami et al. 2009 | Sibling of 608980.1.... |