Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine . The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
Congenital hyponychia and anonychia are rare malformations which may form part of syndromes such as nail–patella syndrome, ectodermal dysplasias and brachydactylies, or may occur as an isolated finding. Congenital hyponychia and anonychia are frequently accompanied by underlying skeletal abnormalities. A 20-year-old woman showed congenital bilateral hypoplasia or aplasia of the second, third and fourth toenails with corresponding phalanx dysplasia or aplasia of the affected toes. Malformations of the hands or other congenital defects were absent. The findings in this patient do not exactly fit any known entities. Our clinical observation prompted us to review the literature on congenital hyponychia/anonychia and to summarize recent advances in understanding molecular events in nail development. In conclusion, the association of nail anomalies with aplasia and/or hypoplasia of corresponding middle and/or distal phalanges supports the hypothesis of bone-dependent nail formation.
Brachydactyly - anonychia: A rare syndrome characterized by short toes and nail abnormalities
Brachydactyly-clinodactyly (medical condition): A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger.
Brachydactyly - dwarfism - mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
Brachydactyly - elbow, wrist dysplasia: A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers.
Brachydactyly, long thumb type: A rare digital anomaly characterized by short fingers and a long thumb.
Brachydactyly - mesomelia - mental retardation - heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
Brachydactyly nystagmus cerebellar Ataxia: Loss of muscle control
Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
Brachydactyly - small stature - face anomalies:
an abnormal shortness of the fingers, usually associated with some congenital syndrome.
Brachydactyly - tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
Brachydactyly type A1 or Farabee-type brachydactyly. BDA1 is an autosomal dominant inherited disease.
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: 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: A rare digital anomaly where the middle bones of the second to fifth fingers are missing and the nails are abnormal.
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: A hand abnormality where involving short second digits and dislocated thumbs.
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: 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: A rare condition characterized by short metacarpals and metatarsals - hand bones that lead to the fingers.
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 - 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: A rare syndrome characterized by kidney abnormalities and forearm and lower leg deformity. The condition describes a single reported case.
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 (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.
Brachymetapody, anodontia, hypotrichosis, albinoidism: A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation.
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.