Rare Disease Index

congenital disorder of digestive system

human disease

Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.

skin disease found in immunocompromised patients, caused by TSPyV

The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.

human disease

medical condition

human disease

human disease

autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)

Human disease

human disease

human disease

tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth

human disease

Human disease

medical condition

headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms

neuropathic disorder

Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges

rare metabolic disorder

Genetic metabolic disorder

congenital disorder

Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly

human disease

presence of 47XXX chromosomes rather than the typical 46XX