Rare Disease Library

22q11.2 deletion syndrome

22q11DS · CATCH 22

Autosomal anomaly syndrome

Chromosome X structural anomaly syndrome

Chromosome Y structural anomaly syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Flat face-microstomia-ear anomaly syndrome

Blepharophimosis-telecanthus-microstomia syndrome · Simosa-Penchaszadeh-Bustos syndrome

Nakajo-Nishimura syndrome

Amyotrophy-fat tissue anomaly syndrome · Secondary hypertrophic osteoperiostosis with pernio

Pierre Robin syndrome-faciodigital anomaly syndrome

Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Sex-chromosome anomaly syndrome

Allosome anomaly

Sex-chromosome number anomaly syndrome

Allosome number anomaly

Sex-chromosome structural anomaly syndrome

Allosome structural anomaly

Syndromic nail anomaly

X and Y chromosomal anomaly syndrome

X chromosome number anomaly syndrome

Y chromosome number anomaly syndrome