Nasopalpebral Lipoma-Coloboma Syndrome
A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
Epidemiology
Nasopalpebral lipoma-coloboma-telecanthus syndrome (NPLCS) is a very rare syndrome. About 20 patients from 5 families were reported in the literature.
Clinical description
NPLCS is characterized by a congenital facial malformation associating bilateral upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia. Additional features may include displaced or aplastic lacrimal punctae, epiphora, aberrant eyelashes, conjunctival hyperemia, corneal and lens opacities, strabismus, nanophtalmos, limbal dermoid, dysplastic ears and nasopalpebral hamartomas. No extra-facial abnormalities are described.
Etiology
A heterozygous frameshift variant in the zinc finger transcription factor, encoded by ZDBF2 (2q33.3) has been identified in one sporadic patient. However, no functional studies were published to support the pathogenicity of this variant and no further patients have been reported since.
Diagnostic methods
The diagnostic is based on clinical examination.
Differential diagnosis
The main differential diagnoses include congenital infiltrating lipomatosis of the face, oculocerebrocutaneous syndrome, and conditions with eyelid coloboma and hypertelorism such as frontonasal dysplasia, craniofrontonasal syndrome, and oculoauriculofrontonasal syndrome.
Antenatal diagnosis
Genetic prenatal diagnosis is not available since the molecular basis is unknown.
Genetic counseling
Vertical, male-to-male transmission in 3 and 4 generations suggests autosomal dominant mode of inheritance with complete penetrance. Genetic counseling should be offered to affected families.
Management and treatment
Plastic and reconstructive surgery can be performed, notably excision of the lipomas and eyelid coloboma repair.
Prognosis
There are limited data in the literature regarding the prognosis of the affected individuals. Cognitive development seems to be normal.