Ring chromosome 15 syndrome

Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).

Cafe-au-lait spot

Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.

Total: 5

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PMID (PMCID)
29223476	MIXED_SAMPLE	Infant, Newborn
	Fecundity in an infertile man with r(15) - a challenge to the current paradigm.
	Kalantari H, Karimi H, Almadani SN, Fakhri M, Mokhtari P, Gourabi H, Mohseni Meybodi A. Reprod Biomed Online. 2018;36(2):210-218.
	Ring chromosome 15 [r(15)] is a rare condition with a mild-to-severe growth failure, mental disabilities, cafe-au-lait spots, specific facial features, fertility difficulties and other minor dysmorphic stigmata.
24551985	FEMALE
	Ring chromosome 15: expanding the phenotype.
	Eid MM, El-Bassyouni HT, Eid OM, Hamad SA, Elgerzawy A, Zaki MS, El-Ruby M. Genet Couns. 2013;24(4):417-25.
	Clinical examination of the patient revealed the characteristic features of ring chromosome 15, such as growth retardation, hypertelorism, frontal bossing, a highly arched palate, small hands and feet and cafe-au-lait spots.
14577679	FEMALE
	A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion.
	Morava E, Bartsch O, Czako M, Frensel A, Karteszi J, Kosztolanyi GY. Genet Couns. 2003;14(3):337-42.
	A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion.
14577679	FEMALE
	A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion.
	Morava E, Bartsch O, Czako M, Frensel A, Karteszi J, Kosztolanyi GY. Genet Couns. 2003;14(3):337-42.
	Ring chromosome 15 [r(15)] syndrome is characterised by specific facial features, cafe au lait spots, failure to thrive, mental retardation and typically with a terminal deletion of the long arm of chromosome 15.
4040173	MIXED_SAMPLE
	Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.
	Wilson GN, Sauder SE, Bush M, Beitins IZ. J Med Genet. 1985;22(3):233-6.
	Russell-Silver and ring 15 syndromes share clinical features such as growth deficiency, triangular facies, digital anomalies, and cafe-au-lait spots.