<unk>  type 2 <unk> 2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities. This subtype of<unk>  is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. This condition is extremely rare, as fewer than 60 confirmed cases have been reported in medical literature.<unk> 2 affects males and females in equal proportions, and is most often sporadic. However it can be transmitted by an affected mother to their offspring, like in the original family described by<unk>  and<unk> . Other genetic variants in the same gene FAM111A may produce the related, but more severe disorder, osteocraniostenosis. The condition was originally described by Frederic<unk>  and Louis Linarelli in 1966 in a mother and her son. In 1967, John<unk> , a pediatric radiologist, described the radiographic aspects of the same family. The condition was since called the<unk> . A somewhat similar, but recessively inherited condition known as<unk>  Type 1 <unk> 1) also exists. This recessive condition includes intellectual disability as a common symptom (unlike<unk> 2), and is also known as the Sanjad-Sakati syndrome or Hypoparathyroidism-Retardation-Dysmorphism Syndrome.
Kenny-Caffey syndrome
Cohen syndrome
Cohen-Gibson syndrome
Gleich's syndrome
De Barsy syndrome
Foster Kennedy syndrome
Leschke syndrome
Fox–Fordyce disease