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Items: 3

1.

Acromelic frontonasal dysostosis

Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet. [from OMIM]

MedGen UID:
350933
Concept ID:
C1863616
Disease or Syndrome
2.

Pai syndrome

Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development (Guion-Almeida et al., 2007). [from OMIM]

MedGen UID:
371972
Concept ID:
C1835087
Disease or Syndrome
3.

Midline central nervous system lipomas

MedGen UID:
870525
Concept ID:
C4024973
Neoplastic Process
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