Diseases named after discoverers

Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women

acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results in abnormal development located in limb, located in head, located in face

Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow

rare disease

rare congenital disorder

autosomal recessive congenital disorder

multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions

syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs

human disease

medical condition

human disease

osteochondrodysplasia that has material basis in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face

Human disease

Human disease

medical condition

mechanical problem where the left iliac vein is compressed by the right iliac artery

medical condition

type of rare, inherited, severe, progressive myoclonic epilepsy

synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone

syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta

genetic skeletal disease

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence

human disease

congenital disorder of nervous system

syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome

human disease

medical condition

late-onset muscular dystrophy beginning in the anterior comparment of the legs

uncommon congenital vascular malformation (CVM) characterized by the venous malformations, cutaneous capillary malformations, and lymphatic malformations along with arteriovenous malformation.

autosomal recessive genetic disorder

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course