Diagnoslista/länkar

Lista över diagnoser som expertteamet ansvarar för samt länkar till diagnosbeskrivningar.

Vi länkar till de informationstexter som finns i Socialstyrelsens kunskapsdatabas. Du kan själv söka efter diagnoser direkt i kunskapsdatabasen.

Lista/länkar till diagnosbeskrivningar

Kraniosynostoser

Isolated craniosynostosis ORPHA:139390
Syndromic craniosynostosis ORPHA:139393

Craniofacial clefts; facial dysostosis; encephaloceles; congenital skull defects

Median facial cleft ORPHA:141234
Oblique facial cleft ORPHA:141253
Frontonasal dysplasiaORPHA:250
Proboscis lateralis ORPHA:141099
Treacher-Collins syndrom ORPHA:861
Nager syndrom ORPHA:245
Postaxial acrofacial dysostosis ORPHA:246
Cleidocranial dysplasia ORPHA:1452
SCALP syndrome ORPHA:370052

Craniofacial microsomia; microtia; cong facial nerve palsy

Oculo-auriculo-vertebral spectrum ORPHA:141132
X-linked mandibulofacial dysostosis ORPHA:1131
Paralytic facial malformation ORPHA:156224
Cleidokranial dysplasi/dysostos
Kraniofacial mikrosomi (Okuloaurikulovertebralt spektrum, OAVS, okuloaurikulovertebral dysplasi, OAVD, Goldenhars syndrom, hemifacial mikrosomi, CFM)
Möbius syndrom

Robin sequence; cleft lip/palate

Isolated Pierre Robin syndrome ORPHA:718
Rare disease with Pierre Robin syndrome ORPHA:138044
Cleft lip with or without cleft palate ORPHA:1991
Cleft palate ORPHA:2014