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Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa

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Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
SpecialtyMedical genetics
SymptomsOcular, visual, dental and skeletal
Usual onsetBirth
DurationLifelong
CausesGenetic mutation
Preventionnone
PrognosisGood
Frequencyvery rare, only 2 cases have been described in medical literature
Deaths-

Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is characterized by ocular/visual, dental and osseous anomalies. Only 2 cases have been described in medical literature.[1]

Signs and symptoms

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The following is a list of symptoms that this disorder causes:[2][3][4]

Etimology

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This condition was first described in 2006 by Megarbane et al. when they described 2 cousins from a consanguineous Labenese family. Only one of them had amelogenesis imperfecta.[5]

References

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  1. ^ "OMIM Entry - 610319 - RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA". www.omim.org. Retrieved 2022-06-13.
  2. ^ "OMIM Clinical Synopsis - 610319 - RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA". www.omim.org. Retrieved 2022-06-13.
  3. ^ "Utah".
  4. ^ "Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". 2021-06-24. Archived from the original on 2021-06-24. Retrieved 2022-06-13.
  5. ^ Mégarbané, André; Ghanem, Ismat; Waked, Naji; Dagher, Fernand (2006-07-15). "A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement". American Journal of Medical Genetics. Part A. 140 (14): 1491–1496. doi:10.1002/ajmg.a.31316. ISSN 1552-4825. PMID 16770799. S2CID 36717527.