Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
| Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa | |
|---|---|
 | |
| Specialty | Medical genetics |
| Symptoms | Ocular, visual, dental and skeletal |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | Good |
| Frequency | very 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
[edit]The following is a list of symptoms that this disorder causes:[2][3][4]
- Amelogenesis imperfecta
- Biconcave vertebrae
- Wide ribs
- Photophobia
- Deltoid tuberosity prominence
- Reduced visual acuity
- Limb rhizomelia
- Cone-rod dystrophy
- Scoliosis
- Shortening of the clavicles
- Shortening of the ribs
- Short neck
- Shortening of the humerus
- Strabismus
- Vision impairment
- Short radius bone epiphysis
- Retinitis pigmentosa
- Short stature
Etimology
[edit]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
[edit]- ^ "OMIM Entry - 610319 - RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA". www.omim.org. Retrieved 2022-06-13.
- ^ "OMIM Clinical Synopsis - 610319 - RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA". www.omim.org. Retrieved 2022-06-13.
- ^ "Utah".
- ^ "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.
- ^ 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.