Al-Gazali syndrome- MedGen UID:
- 373020
- •Concept ID:
- C1836121
- •
- Disease or Syndrome
Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by Ben-Mahmoud et al., 2018).
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1- MedGen UID:
- 1637913
- •Concept ID:
- C4551975
- •
- Disease or Syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015).
Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Radioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; 616738) is caused by heterozygous mutation in the MECOM gene (165215) on chromosome 3q26.