Preferred Label : Kleeblattschaedel;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : KLEEBLATTSCHADEL; Cloverleaf skull;
Description : Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis.
The condition shows pathogenetic variability and etiologic heterogeneity. The cause
of isolated cloverleaf skull is unknown (Cohen, 2009). Cohen (1975) pointed out that
Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases
of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000).
Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including
type 2 thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf
skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various
syndromes.;
Inheritance : Autosomal dominant; all cases have been sporadic;
Prefixed ID : 148800;
Origin ID : 148800;
UMLS CUI : C1860050;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
