Synonym(s): - Familial hollow visceral myopathy - Hereditary hollow visceral myopathy - Megaduodenum and/or megacystis
Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease Entire classification		Classification (ICD10): - Diseases of the digestive system - See
Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: no data available Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ACTG2	P63267	102545

- Autosomal recessive inheritance
- Bladder and ureter anomalies
- Duodenal atresia / stenosis / megaduodenum
- Megaureter / hydronephrosis / pyeloureteral junction syndrome

- Absent / hypotonic / flaccid abdominal wall muscles
- Stillbirth / neonatal death

- Absent / small fingernails / anonychia of hands
- Anteverted nares / nostrils
- Broad forehead
- Camptodactyly of fingers
- 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
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Narrow rib cage / thorax
- Restricted joint mobility / joint stiffness / ankylosis
- Round face
- Short bowel
- Situs inversus visceralis / colon / intestine trasposition / heterotaxia
- Umbilical hernia