Arachnodactyly-intellectual disability-dysmorphism syndrome (AIDD) is an ultra-rare genetic condition. People with AIDD often have long, thin fingers and toes (arachnodactyly), a “Marfan-like” body ...
Kosztolányi syndrome (also called Arachnodactyly–Abnormal Ossification–Intellectual Disability syndrome) is a very rare genetic condition first described in 1995. Babies who have it are born with ...
Arachnodactyly-abnormal ossification-intellectual disability syndrome is an ultra-rare, congenital (present at birth) condition. Children have very long, slender fingers and toes (arachnodactyly), ...
Ulick syndrome—better known today as Apparent Mineralocorticoid Excess (AME)—is a rare, inherited condition where the kidneys are “tricked” into acting like the hormone aldosterone is very high, even ...
Cortisone reductase deficiency (CRD) is a rare genetic condition where the body cannot properly reactivate cortisone into cortisol inside cells. Normally, an enzyme called 11β-hydroxysteroid ...
Apparent mineralocorticoid excess (AME) is a rare, usually childhood-onset condition where the body acts as if it has too much aldosterone (the salt-retaining hormone) even though aldosterone itself ...
11β-HSD2 deficiency is a rare genetic condition in which the body cannot properly switch the hormone cortisol into its inactive form, cortisone, inside certain kidney cells. When this “switch” does ...
Congenital absence of the foot means a baby is born without the entire foot and ankle on one or both legs. On X-ray there are no bones below the tibia or fibula (the two long bones of the lower leg). ...
Apodia means a baby is born without a foot and ankle. In apodia, there are no bones past the lower-leg bones (the tibia and fibula). The lower leg itself is present, including the growing ends ...
Gershoni-Baruch-Leibo syndrome is an ultra-rare, inherited disorder in which a baby is born with a small area on the scalp where skin did not fully form (aplasia cutis congenita) and later shows very ...
Aplasia cutis–myopia syndrome is an extremely rare genetic condition that links a birth defect of the skin with serious eye problems. Babies are born with a small area where the skin did not fully ...
Bronspiegel–Zelnick syndrome is another name for aplasia cutis congenita–intestinal lymphangiectasia syndrome. Babies are born with aplasia cutis congenita (ACC)—a patch where scalp skin is missing, ...
Aplasia cutis congenita–intestinal lymphangiectasia (ACC-IL) syndrome is an extremely rare inherited disorder seen at birth. This is a very rare association seen in two brothers reported in 1985: a ...
Aplasia Cutis Congenita (ACC) with Autosomal Recessive Disease means a baby is born with a patch where skin did not form. It is present at birth. The patch may look like a shallow wound, a thin shiny ...
Aphonia–hearing loss–retinal dystrophy–duplicated (bifid) halluces–intellectual disability syndrome is an extremely rare genetic syndrome that affects several body systems from birth. Children ...
Aphonia–deafness–retinal dystrophy–bifid halluces–intellectual disability syndrome is an extremely rare, genetic condition that affects many parts of the body from birth. The main features are: no ...
Aphalangy-Syndactyly-Microcephaly (ASM) syndrome is an ultra-rare genetic condition that mainly affects the hands, feet, and head size. “Aphalangy” means some finger or toe bones (phalanges) did not ...
Aphalangy–Hemivertebrae–Urogenital–Intestinal Dysgenesis (A/H/U/I dysgenesis)—also called Johnson–Munson syndrome is an extremely rare birth condition. It was reported in only a few siblings in the ...
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare birth disorder. Children are born with missing or very small finger and toe bones (phalanges), one-sided ...
Type I acrocephalosyndactyly—better known as Apert syndrome—is a rare, inherited condition that affects how the skull, face, hands, and feet grow. In Apert syndrome, some skull seams (called sutures) ...
