Delleman syndrome

Delleman and Oorthuys 1981

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).

<100 cases are described

Goltz syndrome; Goldenhar syndrome

1. Gazali L et al (1988) The oculocerebrocutaneous (Delleman) syndrome. J Med Genet 25: 773-778
2. 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
3. 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
4. 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
5. 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
6. Hoo JJ et al (1991) Oculocerebrocutaneous (Delleman) syndrome: a pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am J Med Genet 40: 290-293