FDLAB is an extremely rare autosomal recessive syndrome characterized by facial dysmoprhism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
Autosomal recessive
8q12.3
FDLAB is an extremely rare autosomal recessive syndrome characterized by facial dysmoprhism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601552.1 | Lebanon | Female | Yes | Yes | Lens subluxation; Abnormal sclera morph... Lens subluxation; Abnormal sclera morphology; Shallow anterior chamber; Iris atrophy; Overhanging nasal tip; Dental crowding; Left ventricular hypertrophy ;  | NM_004318.3:c.2203C>T | Homozygous | Autosomal, Recessive | Patel et al, 2014; Haddad et al. 2001 | 3 similarly affected... |
| 601552.2 | Lebanon | Female | Visual loss; Corneal opacity; Abno... Visual loss; Corneal opacity; Abnormal anterior chamber morphology; Lens subluxation; Posterior synechiae of the anterior chamber; Large beaked nose ; | NM_004318.3:c.2203C>T | Homozygous | Autosomal, Recessive | Patel et al, 2014; Mansour et al, 2013 | |||
| 601552.3 | Saudi Arabia | Female | Yes | No | Visual loss; Lens subluxation; Iris ... Visual loss; Lens subluxation; Iris atrophy; Large beaked nose; Retrognathia; | NM_004318.3:c.1852_1856delAACCTinsGGG | Homozygous | Autosomal, Recessive | Patel et al, 2014 |
Shawaf et al (1995) were the first to describe the describe FDLAB. They reported on a Lebanese family in which six members over three generations presented with a asyndrome of mild facial dysmorphism, subluxation of the crystalline lenses, variable degrees of angle closure, and patchy areas of iris atrophy. The dysmorphic features included crowded teeth with malocclusion, beaked large nose, triangular retracted chin, and antimongoloid slanting of the palpebral fissures.