Rare Disease Library

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

Dysostosis with limb and face anomalies as a major feature

Dysostosis with limb anomaly as a major feature

Mandibulofacial dysostosis

Bilateral and symmetric oto-mandibular dysplasia

Mandibulofacial dysostosis with alopecia

MFDA

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Macroblepharon-ectropion-hypertelorism-macrostomia syndrome

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

X-linked mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome