Freeman-Sheldon syndrome

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Total: 2

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PMID (PMCID)
24225909	FEMALE	Child
	Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome.
	Vyas V, Agha R, Ahmad T. BMJ Case Rep. 2013;2013:.
	Children born with the rare congenital condition Freeman-Sheldon syndrome (FSS) have a characteristic facial appearance: microstomia, a long philtrum, 'H-shaped' chin abnormality and 'pinched lips' in addition to extra-facial features such as kyphoscoliosis and hand deformities.
20924721	MALE	Infant
	p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.
	Al-Haggar M, Yahia S, Damjanovich K, Ahmad N, Hamada I, Bayrak-Toydemir P. Indian J Pediatr. 2011;78(1):103-5.
	To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism, long philtrum, small pinched nose and pursed mouth.