Diseases

Brachydactyly elbow wrist dysplasia

Brachydactyly - elbow, wrist dysplasia: A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers.

Brachydactyly scoliosis carpal fusion

Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.

Brachydactyly tibial hypoplasia

Brachydactyly - tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.

Brachydactyly type A1

Brachydactyly type A1 or Farabee-type brachydactyly. BDA1 is an autosomal dominant inherited disease.

Brachydactyly type A2

Brachydactyly type A2: A very rare digital anomaly characterized by shortened middle bones of the second finger (index finger) and second toe. Type A2 is a very rare form of brachydactyly. The phalanges of the index fingers and second toes are shortened.

Brachydactyly type A3

Brachydactyly type A3: A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger.

Brachydactyly type A5 nail dysplasia

Brachydactyly, type A5, nail dysplasia: A rare digital anomaly where the middle bones of the second to fifth fingers are missing and the nails are abnormal.

Brachydactyly type A6

Osebold et al. (1985) described a kindred in which 7 members had a constellation of skeletal anomalies which appeared to constitute a 'new' syndrome. The middle phalanges of the hands and feet were hypoplastic or absent. The limbs showed mesomelic shortening, and the affected persons were in general somewhat short. The terminal phalanges of the index fingers deviated radially. In younger members x-rays showed delayed coalescence of bipartite calcanei. All were of normal intelligence. In the wrist the hamate and capitate bones were joined. Male-to-male transmission was observed and affected persons were found in 3 generations.

Brachydactyly type A7

Brachydactyly, type a7: A hand abnormality where involving short second digits and dislocated thumbs.

Brachydactyly type B

Anonychia onychodystrophy brachydactyly type b: A rare, dominantly inherited disorder characterized abnormal or absent nails, permanently flexed fingers and a broad, finger-like thumb.

Brachydactyly type C

Brachydactyly type C: A rare malformation characterized primarily by variable deformities involving the two sections closest to the hand of the second and third fingers.

Brachydactyly type E

Brachydactyly type E: A rare condition characterized by short metacarpals and metatarsals - hand bones that lead to the fingers.

Brachydactyly types B and E combined

Brachydactyly types B and E combined is a rare hand anomaly characterized by shortening of one or more metacarpals (hand bones) as well as an underdeveloped end bone in the little finger. Pitt and Williams (1985) reported this type of brachydactyly in 12 members of 4 generations of a family. The subjects were, however, not short of stature as in type E. Male-to-male transmission was noted in several instances. Pitt and Williams called this phenotype brachydactyly type Ballard after the name of the family.

Brachydactyly with hypertension

Brachydactyly - arterial hypertension: A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients.

Brachymesomelia renal syndrome

Brachymesomelia-renal syndrome: A rare syndrome characterized by kidney abnormalities and forearm and lower leg deformity. The condition describes a single reported case.

Brachymesophalangy 2 and 5

Brachymesophalangy 2 and 5 (medical condition): A rare genetic disorder characterized by short middle bones of the second and fifth fingers and toes.

Brachymesophalangy type 2

Brachymesophalangy type 2 (medical condition): A very rare digital anomaly characterized by shortened middle bones of the second finger (index finger) and second toe. These fingers and toes are also often angled abnormally.

Brachymorphism onychodysplasia dysphalangism syndrome

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One child had cystic adenomatoid disease of the lung. The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. We suggest that this is an independent entity (BOD syndrome). The aetiology is still unknown. Differential diagnosis and nosological difficulties are discussed.

Brachyolmia

Brachyolmia: A syndrome characterized mainly by short trunk dwarfism. Brachyolmia: A syndrome characterized mainly by short trunk dwarfism.

Brachyolmia- recessive Hobaek type

provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (271630) forms and is inherited in an autosomal dominant fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism.