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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 - intellectual disability
  • 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.

Symptoms

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

The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. The key signs for diagnosis may include:
  • non-synostotic brachycephaly or plagiocephaly (a deformity of the skull that is not due to bone fusion)
  • structural brain anomalies
  • abnormal electroencephalogram (EEG)
  • intellectual disability
  • deafness
  • ocular (eye) abnormalities (cataracts or glaucoma)
  • distinctive facial features (including a high/wide forehead; shallow eye orbits; a flat/round face; low-set, posteriorly-rotated ears; and an abnormally small mouth)
  • body asymmetry, which may be present at birth (congenital)[1]
Last updated: 6/23/2015

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%
Hypoplasia of the corpus callosum 5%
Long eyelashes 5%
Megalocornea 5%
Microtia 5%
Shawl scrotum 5%
Absent axillary hair -
Brachycephaly -
Breast hypoplasia -
Camptodactyly -
Cerebral atrophy -
Flat face -
Growth delay -
Hearing impairment -
Intellectual disability -
Low-set ears -
Pectus excavatum of inferior sternum -
Posteriorly rotated ears -
Scrotal hypoplasia -
Shallow orbits -
Sporadic -
Superior pectus carinatum -

Last updated: 8/1/2015

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. Corona-Rivera JR et. al. Further clinical delineation of Fine-Lubinsky syndrome. Am J Med Genet A. May, 2009; 149A(5):1070-1075.


Other Names for this Disease
  • Brachycephaly - deafness - cataract - intellectual disability
  • 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.