- Fatty aldehyde dehydrogenase deficiency
- FALDH deficiency
- FADH deficiency
- FAO deficiency
- Developmental delay
- Mental retardation
- Speech difficulties
- Spastic diplegia/tetraplegia paralysis (diplegia is paralysis of both legs; tetraplegia is paralysis of all four limbs)
- Spasticity in the legs: leg spasms, which can impair motor abilities and waking
- Glistening white dotes in the retina of the eye
- Pruritis (itching)
- Preterm birth
The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson 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.
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.
- Sjogren-Larsson Syndrome. United Leukodystrophy Foundation. http://ulf.org/sjogren-larsson-syndrome. Accessed 9/21/2012.
- Rizzo WB. Sjogren-Larsson Syndrome: Molecular Genetics and Biochemical Pathogenesis of Fatty Aldehyde Dehydrogenase Deficiency. Mol Genet Metab. September 22, 2006; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1933507/?tool=pubmed. Accessed 9/21/2012.