Syndromes with dysmelia

human disease

rare disease

Human disease

acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull

growth disorder

Human disease

genetic disorder affecting the cerebellum

syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities

autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.

Human disease

genetic disorder

medical condition

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations

autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)

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

human disease

Human disease

syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation

medical condition

acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children

medical condition

syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis