Müllerian derivatives-lymphangiectasia-polydactyly syndrome

Müllerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(43.9%)		 22140078
 Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
Oudesluijs G, Simon ME, Burggraaf RH, Waterham HR, Hennekam RC.
Am J Med Genet A. 2012;158A(2):292-7.
Retrognathia Broad forehead
NSDHL SETBP1
46, XY Disorders of Sex Development Congenital Hand Deformities Corpus Callosum Craniofacial Abnormalities Cryptorchidism Differential Diagnosis Females Fibroblasts Glycosaminoglycans Homo sapiens Infant, Newborn Intellectual Disability Limb Deformities, Congenital Lymphocyte Mutation Nails, Malformed Phenotype Polydactyly
2
(4.0%)		 11746031
 Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome.
Bellini C, Bonioli E, Josso N, Belville C, Mazzella M, Costabel S, Sementa AR, Marino CE, Toma P, Hennekam RC, Serra G.
Am J Med Genet. 2001;104(1):69-74.
Pulmonary lymphangiectasia
Adult Fatal Outcome Females Homo sapiens Infant, Newborn Lymphangiectasis, Intestinal Syndrome
2
(4.0%)		 11746030
 Lymphangiectasia with persistent Mullerian derivatives: confirmation of autosomal recessive Urioste syndrome.
van Haelst MM, Hoogeboom J, Galjaard RJ, Kleijer WJ, den Hollander NS, de Krijger RR, Hennekam RC, Niermeijer MF.
Am J Med Genet. 2001;104(1):65-8.
Respiratory distress
Amniocentesis Females Genes, Recessive Homo sapiens Lymphangiectasis, Intestinal Lymphedema Male Protein-Losing Enteropathies Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0000023 Inguinal hernia Very frequent (99-80%)
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000126 Hydronephrosis Very frequent (99-80%)
HP:0000130 Abnormality of the uterus Very frequent (99-80%)
HP:0000148 Vaginal atresia Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000219 Thin upper lip vermilion Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000319 Smooth philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000455 Broad nasal tip Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000998 Hypertrichosis Very frequent (99-80%)
HP:0001090 Abnormally large globe Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0001290 Generalized hypotonia Very frequent (99-80%)
HP:0001399 Hepatic failure Very frequent (99-80%)
HP:0001433 Hepatosplenomegaly Very frequent (99-80%)
HP:0001541 Ascites Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0001629 Ventricular septal defect Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002901 Hypocalcemia Very frequent (99-80%)
HP:0003075 Hypoproteinemia Very frequent (99-80%)
HP:0003270 Abdominal distention Very frequent (99-80%)
HP:0005469 Flat occiput Very frequent (99-80%)
HP:0005989 Redundant neck skin Very frequent (99-80%)
HP:0006273 Pancreatic lymphangiectasis Very frequent (99-80%)
HP:0006521 Pulmonary lymphangiectasia Very frequent (99-80%)
HP:0008897 Postnatal growth retardation Very frequent (99-80%)
HP:0009085 Alveolar ridge overgrowth Very frequent (99-80%)
HP:0011027 Abnormality of the fallopian tube Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0012210 Abnormal renal morphology Very frequent (99-80%)
HP:0000054 Micropenis Frequent (79-30%)
HP:0002243 Protein-losing enteropathy Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0031842 Lymphangiectasis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID