Tranebjaerg-Svejgaard syndrome

Tranebjaerg-Svejgaard syndrome, also known as X-linked mental retardation associated with psoriasis is a very rare genetic disorder which is characterized by intellectual disabilities, psychomotor development delays, seizures, psoriasis, and cranio-facial dysmorphisms. It is a type of X-linked syndromic intellectual disability. Only 4 cases have been described in medical literature.[1][2]

Tranebjaerg-Svejgaard syndrome
Other namesX-linked mental retardation associated with psoriasis
SpecialtyMedical genetics
Symptomsintellect, psychomotor development, and skin anomalies with craniofacial dysmorphisms
Usual onsetBirth
DurationLifelong
CausesX-linked recessive mutation
Differential diagnosisX-linked ichthyosis
Preventionnone
PrognosisPoor
FrequencyVery rare, only 4 cases have been described in medical literature
Deaths2

Presentation

The following list comprises the symptoms this disorder causes in the people affected by it:[3][4][5]

History

This condition was first discovered in June 1988, when Tranebjaerg et al. described four male cousins with seizures, severe intellectual disability, and psoriasis. They had normal levels of steroid sulfatase. Only two out of the four male cousins had survived. They (Tranebjaerg et al.) proposed this case to be part of a novel X-linked recessive intellectual disability syndrome. One of the sisters decided to terminate 3 consecutive pregnancies which were pre-natally detected to be male, leaving her with 3 consecutive terminations, after those events, she had a female pregnancy, which presumably wouldn't result in another affected baby.[6]

References
  1. "OMIM Entry - 309480 - MENTAL RETARDATION AND PSORIASIS". omim.org. Retrieved 2022-06-05.
  2. "Tranebjaerg Svejgaard syndrome | Semantic Scholar". www.semanticscholar.org. Retrieved 2022-06-05.
  3. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Tranebjaerg Svejgaard syndrome". www.orpha.net. Retrieved 2022-06-05.
  4. "Tranebjaerg Svejgaard Syndrome". DoveMed. Retrieved 2022-06-05.
  5. "Tranebjaerg Svejgaard syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-05.
  6. Tranebjaerg, L.; Svejgaard, A.; Lykkesfeldt, G. (1988-06-01). "X-linked mental retardation associated with psoriasis: a new syndrome?". American Journal of Medical Genetics. 30 (1–2): 263–273. doi:10.1002/ajmg.1320300128. ISSN 0148-7299. PMID 3177453.
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