Rare Disease Library

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Acrofacial dysostosis

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Orofaciodigital syndrome type 9

Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

X-linked mandibulofacial dysostosis

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