Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition present from birth. It changes how the upper eyelids and the inner corners of the eyes are shaped. BPES is a birth ...
Frydman-Cohen-Karmon syndrome (FCKS) is an extremely rare, inherited condition. Frydman-Cohen-Karmon syndrome” is the eponym used in the original 1992 case report describing an autosomal-recessive ...
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (also called Frydman-Cohen-Karmon syndrome). It’s an ultra-rare genetic condition reported in only a few families. People typically ...
Blepharophimosis–intellectual disability syndrome, Verloes type is a very rare genetic syndrome. Children are born with narrow eye openings (blepharophimosis) and often droopy eyelids. They also have ...
Young–Simpson syndrome (often grouped under the KAT6B-related disorders) is a rare genetic condition present from birth. It affects how the face, brain, skeleton, thyroid gland, heart, and other ...
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 typically presents with distinctive facial ...
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 KAT6B-related disorder spectrum. ...
Blepharophimosis–Intellectual Disability Syndrome, Say-Barber-Biesecker–Young–Simpson type is a rare, genetic neurodevelopmental syndrome. It combines a characteristic eye appearance ...
Blepharophimosis–Intellectual Disability Syndrome, SBBYS type is a rare genetic condition. Children are born with narrow eyelid openings (blepharophimosis) and droopy eyelids (ptosis). They also have ...
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 is blepharophimosis. This means the ...
Ohdo–Madokoro–Sonoda syndrome is an ultra-rare genetic condition first described in Japan that combines severe limb formation problems (often the absence of all four limbs, called “tetra-amelia”) ...
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 IQ alone. They also check how well a ...
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 (variants) in a gene on the X-chromosome ...
Blepharophimosis–Intellectual Disability Syndrome, MKB type is a very rare genetic condition that mostly affects boys. The eye openings are narrow (this is called blepharophimosis) and the eyelids ...
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 described it in 1973 in a family where several ...
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 differences in the fingers or toes and ...
Clefting–ectropion–conical teeth syndrome is a rare, inherited condition caused by changes in the TP63 gene that disrupt normal development of ectodermal tissues—skin, hair, nails, teeth, and parts ...
Jabs syndrome is a very rare genetic condition that affects how collagen-rich tissues (skull bones, eyes, and skeleton) form and grow. Children typically have large, late-closing soft spots on the ...
Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial is a rare, inherited inflammatory disease that starts in early childhood. It mainly affects the joints (arthritis), skin ...
Crandall syndrome is an ultra-rare, inherited condition that combines three main problems: (1) twisted, fragile hair called pili torti that leads to hair loss; (2) sensorineural hearing loss that ...
