Tufted angioma is a vascular tumor.
Boomerang dysplasia syndrome is a lethal skeletal dysplasia.
Brown-Vialetto-van Laere syndrome is a motor neuron disorder in which patients suffer from respiratory failure, aural deafness, and progressive ponto-bulbar paralysis.
Brachyolmia refers to a group of autosomal recessive or dominant hereditary skeletal dysplasias exclusively involving the spine.
BOD syndrome is the combination of brachymorphism, onychodysplasia and dysphalangia.
The Bloom syndrome belongs to the group of chromosome fracture syndromes and is characterized by dwarfism and skull deformity coupled with an increased risk of cancer.
Blue-cone monochromaticity (BCM for short) manifests in the patient through various visual impairments, including impaired visual acuity, severely disturbed color vision, photophobia, and nystagmus.
Bladder exstrophy is a congenital malformation affecting the lower abdominal wall, urinary bladder, anterior pelvic ring, and external genitalia.
Birt-Hogg-Dube (BHD) syndrome describes the combined appearance of cutaneous lesions, kidney tumors, and pulmonary cysts, which in some cases are associated with pneumothorax.
Biotinidase deficiency describes a disorder of biotin metabolism, which is based on an activity reduction of the enzyme biotinidase.
Bietti crystal dystrophy is a congenital hereditary disease of the retina with tapetoretinal degeneration beginning between the ages of 20 and 30 years.
Beemer-Langer syndrome is a special form of autosomal recessive congenital hereditary osteochondrodysplasia with a lethal course and is characterized by short ribs and an underdeveloped lung.
The syndrome describes a genetic mutation-related disease that belongs to the group of large-growth syndromes.
Bazex syndrome is a paraneoplastic skin disease characterized by acrokeratosis in carcinomas of the upper airway or cervical lymph node metastases.
Bazex-Dupré-Christol syndrome is a genodermatosis predisposing to early onset basal cell carcinoma.
Acquired partial lipodystrophy, also called Barraquer-Simons syndrome, is characterized by upper body lipoatrophy, especially in the trunk and face, and hypertrophy of the thigh adipose tissue.
Barber-Say Syndrome is a congenital disorder characterized by abnormal hair growth (hypertrichosis), atrophy of the skin, ocular dislocation (ectropion), and overly wide mouth (macrostomia).
Baller-Gerold syndrome describes the combination of corneal suture synostosis and radial beam anomalies.
Autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder of cranial growth.
The autoimmune lymphoproliferative syndrome (ALPS) is characterized by an increase in the number of lymphocytes and is based on a malfunction of the immune system.