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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Fine-Lubinsky syndrome


Other Names for this Disease
  • Brachycephaly, deafness, cataract and mental retardation
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Symptoms


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What are the signs and symptoms of Fine-Lubinsky syndrome?

The signs and symptoms that occur in individuals with Fine-Lubinsky syndrome are based upon the reports of the few individuals who have been described in the medical literature. In 1983, Fine and Lubinsky described a 2-year-old boy with psychomotor delay, brachycephaly (short or broad head), flat face, shallow orbits of the eyes, hypertelorism (widely-spaced eyes), small mouth, cleft palate, cataract, deafness, rocker-bottom feet, and hypoplastic (underdeveloped) scrotum. In 1993, Suthers et al. reported a 4-year-old boy with similar features (without cleft palate) and abnormal chest (pectus carinatum and pectus excavatum). In 1996, Ayme and Philip observed a 20-year-old woman with a similar complex of abnormalities (including the same type of chest), underdeveloped breasts, and absence of axillary (underarm) hair. They proposed the name Fine-Lubinsky syndrome for this complex of features and suggested that another 2-year-old boy reported in 1984 by Preus et al., who did not have cataract, might have had the same syndrome. In 2007, Holder et al. reported an African American brother and sister with features suggestive of Fine-Lubinsky syndrome, including prominent frontal bones, flat facial profile, small nose, and developmental delay/intellectual disability. Other features included brachydactyly (shortness) of fingers and toes, camptodactyly (permanently bent fingers or toes) most severely affecting the second fingers, and hypoplastic/dystrophic nails. The boy also had craniosynostosis, microcephaly (small head), shallow orbits, and poor dentition. The girl had sensorineural hearing loss, small mouth, thin upper lip, depressed nasal bridge, and low-set ears.[1]
Last updated: 6/8/2011

References
  1. Marla J. F. O'Neill et al. BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION. OMIM. October 30, 2009; http://www.ncbi.nlm.nih.gov/omim/601353. Accessed 4/27/2011.