Frydman-Cohen-Karmon syndrome (FCKS) is an extremely rare, inherited condition. Frydman-Cohen-Karmon syndrome” is the eponym used in the original 1992 case ...

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (also called Frydman-Cohen-Karmon syndrome). It’s an ultra-rare genetic condition reported ...

Blepharophimosis–intellectual disability syndrome, Verloes type is a very rare genetic syndrome. Children are born with narrow eye openings (blepharophimosis) ...

Young–Simpson syndrome (often grouped under the KAT6B-related disorders) is a rare genetic condition present from birth. It affects how the face, brain, ...

The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare genetic condition caused by pathogenic variants in the KAT6B gene. It ...

The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant is a rare genetic condition. It affects body development before birth and after birth. It is part of the ...

Mental retardation, unusual facies, and hypothyroidism today we use the term intellectual disability instead of “mental retardation.” I will use simple words ...

Hypothyroidism–dysmorphism–postaxial polydactyly–intellectual disability syndrome is a rare genetic condition. Doctors most often call it ...

Blepharophimosis–Intellectual Disability Syndrome, Say-Barber-Biesecker–Young–Simpson type is a rare, genetic neurodevelopmental syndrome. It combines a ...

Blepharophimosis–Intellectual Disability Syndrome, SBBYS type is a rare genetic condition. Children are born with narrow eyelid openings (blepharophimosis) and ...

Ohdo syndrome is a very rare genetic condition. Babies are born with it. It mainly affects the eyes, face, learning, and overall development. A key eye feature ...

Ohdo–Madokoro–Sonoda syndrome is an ultra-rare genetic condition first described in Japan that combines severe limb formation problems (often the absence of ...

Intellectual disability means a person has limits in learning, problem-solving, and everyday life skills. It starts in childhood. Doctors do not diagnose it by ...

Blepharophimosis–intellectual disability syndrome, Ohdo type is a very rare, present-from-birth condition. Children have narrow eye openings ...

X-linked recessive Ohdo syndrome (Maat-Kievit-Brunner type, XLOS) is a very rare genetic condition that almost always affects boys. It is caused by changes ...

Blepharophimosis–intellectual disability syndrome, Maat-Kievit-Brunner type (often shortened to “MKB type”) is a very rare genetic condition. Children have ...

Blepharophimosis–Intellectual Disability Syndrome, MKB type is a very rare genetic condition that mostly affects boys. The eye openings are narrow (this is ...

Blepharophimosis–Intellectual Disability Syndrome (BIDS) is a rare genetic condition. Children are born with blepharophimosis, which means the eye openings are ...

Pashayan syndrome is a very rare genetic condition that changes the way the face, eyes, nose, and sometimes the hands and brain develop. Doctors first ...

Pashayan–Pruzansky syndrome is a very rare genetic condition. It mainly affects the face and the tear-drainage system. Many people with the syndrome also have ...