Presentation
Entire Body System
- Arachnodactyly
[…] of Familial visceral myopathy : Megacystis Hydroureter Vesicoureteral reflux Cleft palate Microcephaly Round face Broad forehead Micrognathia Low-set, posteriorly rotated ears Prominent nasal bridge Anteverted nares Narrow chest Hyperparathyroidism Arachnodactyly [familydiagnosis.com]
Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - High nasal bridge - Hyperparathyroidy - Long hand / arachnodactyly [csbg.cnb.csic.es]
- Turkish
Facial clefting corpus callosum agenesis * Facial dysmorphism macrocephaly myopia Dandy Walker type… … Wikipedia Mungan Syndrome — Mungan syndrome[1] is first described in 2003 by Mungan Z. et al.[2] as an autosomal recessively inherited disorder in a Turkish [translate.academic.ru]
Ears
- Low-Set Posteriorly Rotated Ears
posteriorly rotated ears Prominent nasal bridge Anteverted nares Narrow chest Hyperparathyroidism Arachnodactyly Joint stiffness Umbilical hernia Anonychia Aganglionic megacolon Abdominal distention ... ... [familydiagnosis.com]
Musculoskeletal
- Long Hands
hand / arachnodactyly - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Narrow rib cage [csbg.cnb.csic.es]
Skin
- Pachyonychia
[…] embryonic failure in development or from exogenous factors such as poison, trauma, or disease. adjustmen … Medical dictionary List of diseases (P) — A list of diseases in the English Wikipedia.DiseasesTOC PaPac Pal* Pachydermoperiostosis * Pachygyria * Pachyonychia [translate.academic.ru]
- Cutaneous Manifestation
Some of these disorders such as lupus erythematosus, dermatomyositic, scleroderma, and vasculitis are defined by their cutaneous manifestations. As investigation increases our under... [wwe.geoscience.net]
Face, Head & Neck
- Round Face
Back to: « Visceral myopathy Symptoms List: Familial visceral myopathy Symptoms and clinical features may include: 2 Clinical Features of Familial visceral myopathy : Megacystis Hydroureter Vesicoureteral reflux Cleft palate Microcephaly Round face Broad [familydiagnosis.com]
face - Short bowel - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Umbilical hernia [csbg.cnb.csic.es]
- Cleft Lip and-or Palate
lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - High nasal bridge - Hyperparathyroidy - Long hand / arachnodactyly - Low set [csbg.cnb.csic.es]
Neurologic
- Dystonia
A missense variant (R183W) in non-muscle actin (ACTB, β-actin) has been linked to a combination of malformations, sensory hearing loss, and delayed-onset generalized dystonia. [agajournals.wordpress.com]
Urogenital
- Incomplete Bladder Emptying
Four patients had urinary tract involvement with dilatation of the ureters and/or incomplete bladder emptying. [ncbi.nlm.nih.gov]