MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

ORPHA:1798Malf.
Autosomal dominant

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

ORPHA:459061Malf.
Autosomal recessive

Craniofacial-deafness-hand syndrome

ORPHA:1529Malf.
Autosomal dominant

Craniofrontonasal dysplasia

ORPHA:1520Malf.
X-linked dominant

Craniofrontonasal dysplasia-Poland anomaly syndrome

ORPHA:1521Malf.
Unknown

Craniolenticulosutural dysplasia

ORPHA:50814Malf.
Autosomal recessive

Craniometadiaphyseal dysplasia, wormian bone type

ORPHA:85184Malf.
Autosomal recessive

Craniometaphyseal dysplasia

ORPHA:1522Malf.
Autosomal dominant, Autosomal recessive

Craniomicromelic syndrome

ORPHA:1524Malf.

Craniorhiny

ORPHA:157832Malf.

Craniosynostosis, Boston type

ORPHA:1541Malf.
Autosomal dominant

Craniosynostosis, Herrmann-Opitz type

ORPHA:2145Malf.

Craniosynostosis, Philadelphia type

ORPHA:1527Malf.
Autosomal dominant

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

ORPHA:1538Malf.
Autosomal dominant

Craniosynostosis-anal anomalies-porokeratosis syndrome

ORPHA:85199Malf.
Autosomal recessive

Craniosynostosis-dental anomalies

ORPHA:284149Malf.
Autosomal recessive

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ORPHA:647681Malf.

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

ORPHA:171839Malf.

Craniosynostosis-intracranial calcifications syndrome

ORPHA:52054Malf.
Autosomal recessive

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

ORPHA:565858Malf.
Autosomal dominant

Craniotelencephalic dysplasia

ORPHA:1528Malf.

Crisponi syndrome

ORPHA:1545Malf.
Autosomal recessive

Crossed polysyndactyly

ORPHA:2935Malf.
Autosomal dominant

Crouzon syndrome

ORPHA:207Malf.
Autosomal dominant