Paula and Bobby
Parents of Lillie
Abdominal Muscles, Absence Of, with Urinary Tract Abnormality and Cryptorchidism
What is Abdominal Muscles, Absence Of, with Urinary Tract Abnormality and Cryptorchidism?
Abdominal Muscles, Absence Of, with Urinary Tract Abnormality and Cryptorchidism is a rare disease. It is also known as Eagle-barrett Syndrome; Egbrs Prune Belly Syndrome Urethral obstruction malformation complex.
The term prune belly describes a congenital deficiency of the abdominal musculature, usually associated with urinary tract abnormalities such as a grossly dilated bladder, hydronephrosis, and hydroureter. Pagon et al. (1979) suggested that in many cases the primary cause is a urethral obstruction, and this may account for the large male predominance. Others have postulated a primary defect of the mesoderm with secondary renal abnormalities. Some children have a milder form of the condition, sometimes termed 'Incomplete Prune-Belly syndrome' or 'Partial Prune-Belly syndrome' (Bellah et al. 1996). The features include cryptorchidism, mild urinary tract abnormalities, mild or unilateral deficiency of abdominal musculature and also cases with deficient abdominal muscles, but with normal genitourinary system.
Carey et al. (1982) noted the association of urethral obstruction sequence with reduction defects of the lower limbs. Pressure on the external iliac vessels is postulated to explain this association. Perez-Aytes et al. (1993) reviewed 28 cases with this association. Other causes of abdominal distension in utero, such as tumours and ascites, can also cause the prune belly phenotype. Most cases are sporadic, but see Gaboardi et al. (1982) and Oliveira et al. (1983). The latter described a case of apparent prune belly syndrome in a sib of a male with megacystis-microcolon-intestinal hypoperistalsis syndrome; this is an important differential diagnosis. Levin et al. (2004) emphasized the overlap between these 2 syndromes.
Lockhart (1979) reported 2 brothers and a sister with prune belly syndrome, pulmonary stenosis, sensory neural deafness and mental retardation. This condition has a separate entry in the database.
Matsuzaki et al. (1996) reported a female case with cleft lip and palate. The kidneys were of normal size and there was no ascites to account for the lax abdominal muscles. The female patient died at 14 months from respiratory failure secondary to pulmonary hypoplasia.
Guillen et al. (1997) reported a fetus with a ring X chromosome with Prune-Belly syndrome due to early urethral obstruction. The genitalia were ambiguous. A uterus and streak ovaries were identified. The ring chromosome lacked the XIST locus. In a review of 11 cases from the Cameroon, Aliyu et al. (2003) found that club feet, pulmonary hypoplasia, imperforate anus and joint contractures were additional features. Mahajan et al. (2004) also reported a case with anorectal malformation. Some of these cases could be classified under 'lower mesodermal defects' - see elsewhere. Bogart et al. (2006) provided a good review. There might be an association with congenital cystic adenomatoid malformation of the lung (Armstrong et al. 2007). The case reported by Goswami et al. (2014), which might be placed under "lower mesodermal defects", had ambiguous genitalia, absent vaginal and anal openings, a large clitoris and an absent bladder, rectum and one kidney.
* This information is courtesy of the L M D.
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What gene changes cause Abdominal Muscles, Absence Of, with Urinary Tract Abnormality and Cryptorchidism?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 100100 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
CHRM3 - 1q43
What are the main symptoms of Abdominal Muscles, Absence Of, with Urinary Tract Abnormality and Cryptorchidism?
The typical symptoms of the syndrome are:
Urogenital sinus anomaly, Urogenital fistula, Prune belly, Ventricular septal defect, Tetralogy of Fallot, Vertebral segmentation defect, Talipes equinovarus, Talipes, Recurrent respiratory infections, Volvulus, Scoliosis, Intestinal malrotation, Pectus excavatum, Multicystic kidney dysplasia, Hydroureter, Hydronephrosis, Abnormality of the skin, Cognitive impairment, Congenital posterior urethral valve, Congenital hip dislocation, Constipation, Cryptorchidism, Decreased fertility, Abnormality of the ribs, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia of the abdominal wall musculature, Anal atresia, Atrial septal defect, Abnormality of the hip bone, Oligohydramnios, Autosomal recessive inheritance, Recurrent urinary tract infections, Xerostomia, Vesicoureteral reflux, Renal insufficiency, Pectus carinatum, Patent ductus arteriosus
How does someone get tested for Abdominal Muscles, Absence Of, with Urinary Tract Abnormality and Cryptorchidism?
The initial testing for Abdominal Muscles, Absence Of, with Urinary Tract Abnormality and Cryptorchidism can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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