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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Fine-Lubinsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the eyelashes 90%
Abnormality of the fontanelles or cranial sutures 90%
Camptodactyly of finger 90%
Cognitive impairment 90%
Malar flattening 90%
Muscular hypotonia 90%
Plagiocephaly 90%
Rocker bottom foot 90%
Scoliosis 90%
Short stature 90%
Tapered finger 90%
Abnormality of the fingernails 50%
Aplasia/Hypoplasia of the corpus callosum 50%
Asymmetry of the thorax 50%
Atresia of the external auditory canal 50%
Brachydactyly syndrome 50%
Broad forehead 50%
Cataract 50%
Cerebral cortical atrophy 50%
Cleft palate 50%
Clinodactyly of the 5th finger 50%
Cryptorchidism 50%
Depressed nasal bridge 50%
Facial asymmetry 50%
Glaucoma 50%
High forehead 50%
Hypertelorism 50%
Intrauterine growth retardation 50%
Long philtrum 50%
Low-set, posteriorly rotated ears 50%
Narrow mouth 50%
Pectus excavatum 50%
Seizures 50%
Short nose 50%
Short toe 50%
Thin vermilion border 50%
Ventriculomegaly 50%
Finger syndactyly 7.5%
Visual impairment 7.5%
Absent axillary hair -
Brachycephaly -
Breast hypoplasia -
Flat face -
Hearing impairment -
Pectus excavatum of inferior sternum -
Scrotal hypoplasia -
Shallow orbits -
Sporadic -
Superior pectus carinatum -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.


Other Names for this Disease
  • Brachycephaly, deafness, cataract and mental retardation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.