Delleman syndrome
Synonym(s)
OCCS; Oculocerebrocutaneous syndrome; Orbital cyst with cerebral and focal dermal malformations
HistoryThis section has been translated automatically.
Delleman and Oorthuys 1981
DefinitionThis section has been translated automatically.
Rare neurocutaneous syndrome (gene mutation unknown) characterized by orbital cysts (more rarely anophthalmia), cleft palate (Angle B et al. 1997), multiple periorbital skin appendages and focal dermal hypoplasia or aplasia (Delleman JW, Oorthuys J WE 1981). Cerebral malformations are also found. Less frequent are cardiac malformations (lesions are characterized by an asymmetric arrangement in which the mosaic of a lethal mutation probably manifests itself (Happle R 1987).
Occurrence/EpidemiologyThis section has been translated automatically.
<100 cases are described
Differential diagnosisThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Gazali L et al (1988) The oculocerebrocutaneous (Delleman) syndrome. J Med Genet 25: 773-778
- Angle B et al (1997) Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome? Am J Med genes. 68: 39-42
- Delleman JW, Oorthuys J WE (1981) Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity? Clin Genet 19: 191-198
- Delleman J W et al (1984) Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity. Clin Genet 25: 470-472
- Happle R (1987) Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Derm 16: 899-906
- Hoo JJ et al (1991) Oculocerebrocutaneous (Delleman) syndrome: a pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am J Med Genet 40: 290-293