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Martinez-Frias syndrome

MedGen UID:
318628
Concept ID:
C1832443
Disease or Syndrome
Synonym: Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
 
Monarch Initiative: MONDO:0011042
OMIM®: 601346
Orphanet: ORPHA137862

Definition

The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010). [from OMIM]

Clinical features

From HPO
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Annular pancreas
MedGen UID:
56211
Concept ID:
C0149955
Congenital Abnormality
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Duodenal atresia
MedGen UID:
75602
Concept ID:
C0266174
Congenital Abnormality
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Jejunal atresia
MedGen UID:
75603
Concept ID:
C0266175
Congenital Abnormality
Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation.
Pancreatic hypoplasia
MedGen UID:
539808
Concept ID:
C0266267
Congenital Abnormality
Hypoplasia of the pancreas.
Hypoplasia of the gallbladder
MedGen UID:
488880
Concept ID:
C0345282
Congenital Abnormality
The presence of a hypoplastic gallbladder.
Intestinal hypoplasia
MedGen UID:
867279
Concept ID:
C4021640
Finding
Developmental hypoplasia of the intestine.
Extrahepatic biliary atresia
MedGen UID:
1621383
Concept ID:
C4520983
Congenital Abnormality
Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010). See also Alagille syndrome (118450), which includes biliary atresia as a feature.
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.

Recent clinical studies

Etiology

Kakajiwala A, Chiotos K, Brothers J, Lederman A, Amaral S
Pediatr Nephrol 2016 Dec;31(12):2249-2251. Epub 2016 Jan 27 doi: 10.1007/s00467-015-3305-1. PMID: 26815660Free PMC Article
Hernandez F, Andres AM, Encinas JL, Domínguez E, Gamez M, Murcia FJ, Leal N, Martinez L, Molina M, Ramos E, Sarria J, Martinez-Ojinaga E, Prieto G, Frauca E, Lopez-Santamaria M
Pediatr Transplant 2013 Sep;17(6):556-60. doi: 10.1111/petr.12124. PMID: 23890077
Galán-Gómez E, Sánchez EB, Arias-Castro S, Cardesa-García JJ
Eur J Med Genet 2007 Mar-Apr;50(2):144-8. Epub 2007 Jan 20 doi: 10.1016/j.ejmg.2006.12.001. PMID: 17321227

Diagnosis

Kakajiwala A, Chiotos K, Brothers J, Lederman A, Amaral S
Pediatr Nephrol 2016 Dec;31(12):2249-2251. Epub 2016 Jan 27 doi: 10.1007/s00467-015-3305-1. PMID: 26815660Free PMC Article
Cruz L, Schnur RE, Post EM, Bodagala H, Ahmed R, Smith C, Lulis LB, Stahl GE, Kushnir A
J Perinatol 2014 Dec;34(12):948-50. doi: 10.1038/jp.2014.162. PMID: 25421130
Patel RV, Kumar H, More B, Rajimwale A
BMJ Case Rep 2014 Jan 24;2014 doi: 10.1136/bcr-2013-200477. PMID: 24464842Free PMC Article
Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J
Eur J Med Genet 2010 Jan-Feb;53(1):25-8. Epub 2009 Nov 1 doi: 10.1016/j.ejmg.2009.10.004. PMID: 19887127
Galán-Gómez E, Sánchez EB, Arias-Castro S, Cardesa-García JJ
Eur J Med Genet 2007 Mar-Apr;50(2):144-8. Epub 2007 Jan 20 doi: 10.1016/j.ejmg.2006.12.001. PMID: 17321227

Therapy

Hernandez F, Andres AM, Encinas JL, Domínguez E, Gamez M, Murcia FJ, Leal N, Martinez L, Molina M, Ramos E, Sarria J, Martinez-Ojinaga E, Prieto G, Frauca E, Lopez-Santamaria M
Pediatr Transplant 2013 Sep;17(6):556-60. doi: 10.1111/petr.12124. PMID: 23890077

Prognosis

Estefanía-Fernández K, Andrés A, Alcolea A, Velayos-López M, Pastrían LG, Ramírez-Amorós C, Gonzalez R, Sarría M, Ramos E, López-Santamaria M, Hernández F
Pediatr Transplant 2022 Aug;26(5):e14270. Epub 2022 Mar 20 doi: 10.1111/petr.14270. PMID: 35307919
Cruz L, Schnur RE, Post EM, Bodagala H, Ahmed R, Smith C, Lulis LB, Stahl GE, Kushnir A
J Perinatol 2014 Dec;34(12):948-50. doi: 10.1038/jp.2014.162. PMID: 25421130
Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J
Eur J Med Genet 2010 Jan-Feb;53(1):25-8. Epub 2009 Nov 1 doi: 10.1016/j.ejmg.2009.10.004. PMID: 19887127
Galán-Gómez E, Sánchez EB, Arias-Castro S, Cardesa-García JJ
Eur J Med Genet 2007 Mar-Apr;50(2):144-8. Epub 2007 Jan 20 doi: 10.1016/j.ejmg.2006.12.001. PMID: 17321227

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