Ruvalcaba syndrome

Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.

Thin vermilion border

Reduced width of the skin of vermilion border region of upper lip.

Total: 1

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PMID (PMCID)
6517098	MIXED_SAMPLE	Infant
	Ruvalcaba syndrome: autosomal dominant inheritance.
	Sugio Y, Kajii T. Am J Med Genet. 1984;19(4):741-53.
	A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes.