Acromelic frontonasal dysplasia

A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

Polydactyly

A congenital anomaly characterized by the presence of supernumerary fingers or toes.

Total: 2

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PMID (PMCID)
1733166	MIXED_SAMPLE	Infant, Newborn
	Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
	Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L. Am J Med Genet. 1992;42(2):180-3.
	Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
1733166	MIXED_SAMPLE	Infant, Newborn
	Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
	Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L. Am J Med Genet. 1992;42(2):180-3.
	Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).