Biemond syndrome is the name used for two very rare patterns of findings described in medical reports. In the older usage, “Biemond syndrome” ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Brachydactyly-nystagmus-cerebellar ataxia syndrome is a very rare congenital condition where a person is born with short fingers or toes (brachydactyly), ...
Stratton-Garcia-Young syndrome is another name used in medical catalogs for a very rare condition officially described as brachydactyly-mesomelia-intellectual ...
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome is a very rare, genetic condition that affects several parts of the body at the same ...
Brachydactyly-long thumb syndrome is a very rare, inherited condition. “Brachydactyly” means the fingers (and sometimes toes) are short. In this syndrome, the ...
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 ...
Brachydactyly–elbow-wrist dysplasia syndrome, also called Liebenberg syndrome, is a rare genetic disorder of limb development. It typically shows: malformed ...
brachydactyly type E, with short stature and hypertension is best known as hypertension-with-brachydactyly syndrome (HTNB) or Bilginturan syndrome—a very rare, ...
Bilginturan brachydactyly syndrome is a rare, inherited condition. People are born with short fingers and toes (a pattern called brachydactyly type E) and ...
Brachydactyly–arterial hypertension syndrome is a rare, inherited disorder. People have short fingers and toes (a pattern called brachydactyly type E) and ...
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 ...
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 ...
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 ...
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 ...
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 ...
Brachydactyly–clinodactyly means a person has short digits and sideways-curved digits. “Brachydactyly” is the medical word for short fingers or toes because ...
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 ...
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 ...
Congenital hypomyelination neuropathy with arthrogryposis is a rare nerve disease that starts before birth. “Congenital” means present at birth. ...
Boylan-Dew-Greco syndrome (BDGS) also called congenital hypomyelination neuropathy with arthrogryposis multiplex congenita is a very rare congenital (present ...
