Other Names for this Disease
- Brachycephaly - deafness - cataract - intellectual disability
- Brachycephaly, deafness, cataract and mental retardation
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Fine-Lubinsky syndrome is a very rare syndrome which has only been reported in a few individuals. Signs and symptoms may include brachycephaly (short or broad head), hearing loss, cataracts, intellectual disability, and several other features affecting various parts of the body. Although the majority of reported cases have been sporadic (occurring in individuals with no history of the disorder in the family), the syndrome has been reported in one pair of siblings with an apparently autosomal recessive inheritance pattern.
Last updated: 4/27/2011
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.
Last updated: 6/8/2011
The cause of Fine-Lubinsky syndrome remains unknown, with the exception of one family report containing an affected brother and sister, suggesting an autosomal recessive inheritance pattern. In all other individuals reported, it appeared to be sporadic (occurring in individuals with no history of the condition in the family), with the affected individuals being born from healthy parents, without any evidence of teratogenic exposures or consanguinity (parents being related). However, additional reports are needed to identify a possible genetic cause of this rare condition. Although karyotypes (a type of chromosome test) were reportedly normal in affected individuals, a submicrocopic chromosomal rearrangement (an abnormality too small to be detected on karyotype) as a cause for the syndrome has not been ruled out.
Last updated: 6/9/2011
At first, all of the individuals who were reported with features suggestive of Fine–Lubinsky syndrome were the only affected individuals in their families. Although a variety of inheritance patterns could be proposed for this disorder, the identification of a brother and sister with unaffected parents suggests a possible autosomal recessive inheritance pattern with a 25% recurrence risk to future siblings. While autosomal dominant inheritance with germ-line mosaicism in a parent cannot be excluded in this case, it is recommended that parents of children with Fine–Lubinsky syndrome be aware of the recurrence risk associated with possible autosomal recessive inheritance.
Last updated: 6/14/2011
In 2009, Corona-Rivera et al reviewed the clinical features of previously published patients. They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry.
Last updated: 4/27/2011
- Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam. Syndromes of the Head and Neck, Fourth Edition. US: Oxford University Press; 2001;
- Fine-Lubinsky syndrome. Orphanet. September 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1272. Accessed 4/27/2011.
- 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.
- Takaya Nakane, Naoki Mizobe, Hidemasa Hayashibe and Shinpei Nakazawa. A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. Clinical Dysmorphology. 2002; 11:195-198.
- Ashley M. Holder, Brett H. Graham, Brendan Lee and Daryl A. Scott. Fine–Lubinsky Syndrome: Sibling Pair Suggests Possible Autosomal Recessive Inheritance. American Journal of Medical Genetics Part A. 2007; 143A:2576-2580.