Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly-preaxial hallux varus syndrome is a very rare, inherited hand–foot difference. Brachydactyly means some digits are short. Preaxial means the problem is on the thumb side ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Biemond Syndrome
Biemond syndrome is the name used for two very rare patterns of findings described in medical reports. In the older usage, “Biemond syndrome” (sometimes called ...
Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome
Brachydactyly-nystagmus-cerebellar ataxia syndrome is a very rare congenital condition where a person is born with short fingers or toes (brachydactyly), involuntary eye movements (nystagmus), and ...
Stratton-Garcia-Young Syndrome
Stratton-Garcia-Young syndrome is another name used in medical catalogs for a very rare condition officially described as brachydactyly-mesomelia-intellectual disability-heart defects syndrome. ...
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome is a very rare, genetic condition that affects several parts of the body at the same time. Children typically have: (1) short ...
Brachydactyly-Long Thumb Syndrome
Brachydactyly-long thumb syndrome is a very rare, inherited condition. “Brachydactyly” means the fingers (and sometimes toes) are short. In this syndrome, the thumb is the opposite: it is long. So ...
Brachydactyly–Joint Dysplasia Syndrome
Brachydactyly–joint dysplasia syndrome is a descriptive term for people who have short digits (short bones in the fingers or toes) together with joints that developed abnormally, such as loose, ...
Brachydactyly–Elbow-Wrist Dysplasia Syndrome
Brachydactyly–elbow-wrist dysplasia syndrome, also called Liebenberg syndrome, is a rare genetic disorder of limb development. It typically shows: malformed elbow bones; abnormally shaped carpal ...
Brachydactyly Type E, With Short Stature and Hypertension
brachydactyly type E, with short stature and hypertension is best known as hypertension-with-brachydactyly syndrome (HTNB) or Bilginturan syndrome—a very rare, inherited disorder marked by short ...
Bilginturan Brachydactyly Syndrome
Bilginturan brachydactyly syndrome is a rare, inherited condition. People are born with short fingers and toes (a pattern called brachydactyly type E) and later develop high blood pressure that tends ...
Brachydactyly–Arterial Hypertension Syndrome
Brachydactyly–arterial hypertension syndrome is a rare, inherited disorder. People have short fingers and toes (a pattern called brachydactyly type E) and early, severe high blood pressure that is ...
Brachydactyly Type C (BDC)
Brachydactyly Type C is a rare birth condition where some finger bones are shorter than usual. Most often, the middle bones of the index, middle, and little fingers are short. The ring finger is ...
Brachydactyly Type B (BDB)
Brachydactyly type B is a rare, inherited hand and foot difference where the outermost bones of the fingers and toes (called distal phalanges) do not fully form or are missing. Fingernails and ...
Smorgasbord-Type Brachydactyly (Brachydactyly Type A7, “BDA7”)
Smorgasbord-type brachydactyly is a very rare, inherited hand-and-foot difference where some fingers or toes are shorter than usual and show a “mix” of features seen in several other brachydactyly ...
Temtamy-Type Brachydactyly
Temtamy-type brachydactyly is a rare, inherited hand-and-foot difference where some of the middle finger and toe bones are short or missing. The change mainly affects the index finger (second finger) ...
Brachymesophalangy V
Brachymesophalangy V means the middle bone of the little finger (5th finger) is short. The little finger may also bend toward the thumb side (this bend is called clinodactyly). People are born with ...
Brachydactyly–Clinodactyly
Brachydactyly–clinodactyly means a person has short digits and sideways-curved digits. “Brachydactyly” is the medical word for short fingers or toes because the bones are shorter than usual. ...
Brachydactyly Type A3 (BDA3)
Brachydactyly type A3 (BDA3) is a congenital hand difference in which the middle bone (middle phalanx) of the little finger is shorter than usual, often making the tip of the finger angle slightly ...
Short Stature with Non-Specific Skeletal Abnormalities, Type 2 (SSNSA-2)
Short stature with non-specific skeletal abnormalities, type 2” (SSNSA-2) is a genetic skeletal dysplasia. Children and adults are short for age and have mild-to-moderate bone shape differences—for ...
Congenital Hypomyelination Neuropathy with Arthrogryposis Multiplex Congenita (AMC)
Congenital hypomyelination neuropathy with arthrogryposis is a rare nerve disease that starts before birth. “Congenital” means present at birth. “Hypomyelination” means the myelin coat (the ...
