Medicine:Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
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| Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa | |
|---|---|
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| 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
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
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
- ↑ "OMIM Entry - 610319 - RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA" (in en-us). https://www.omim.org/entry/610319.
- ↑ "OMIM Clinical Synopsis - 610319 - RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA". https://www.omim.org/clinicalSynopsis/610319.
- ↑ "Utah". https://hpo.jax.org/app/browse/disease/OMIM:610319.
- ↑ "Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". 2021-06-24. https://rarediseases.info.nih.gov/diseases/9968/rhizomelic-dysplasia-scoliosis-and-retinitis-pigmentosa.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/16770799/.
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