Welcome to PhenoDis

Mullerian derivatives - lymphangiectasia - polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs:	URIOSTE SYNDROME
Number of Symptoms	72
OrphanetNr:	1655
OMIM Id:	235255
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	3 cases [Orphanet]
Inheritance:	Unknown [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Syndromic lymphedema
-Rare circulatory system disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare skin disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0008678)	Renal hypoplasia/aplasia	Occasional [Orphanet]	127 / 7739
2	(HPO:0000072)	Hydroureter	Frequent [Orphanet]	146 / 7739
3	(HPO:0000054)	Micropenis	Occasional [Orphanet]	257 / 7739
4	(HPO:0000035)	Abnormality of the testis	Very frequent [Orphanet]	296 / 7739
5	(HPO:0000028)	Cryptorchidism		347 / 7739
6	(HPO:0000126)	Hydronephrosis		119 / 7739
7	(HPO:0009928)	Thick nasal alae	Very frequent [Orphanet]	21 / 7739
8	(HPO:0000470)	Short neck	Frequent [Orphanet]	345 / 7739
9	(HPO:0009085)	Alveolar ridge overgrowth		4 / 7739
10	(HPO:0000445)	Wide nose	Frequent [Orphanet]	190 / 7739
11	(HPO:0000347)	Micrognathia		426 / 7739
12	(HPO:0005989)	Redundant neck skin	Frequent [Orphanet]	40 / 7739
13	(HPO:0000219)	Thin upper lip vermilion		112 / 7739
14	(HPO:0000175)	Cleft palate		349 / 7739
15	(HPO:0000494)	Downslanted palpebral fissures		328 / 7739
16	(HPO:0000463)	Anteverted nares	Occasional [Orphanet]	305 / 7739
17	(HPO:0100037)	Abnormality of the scalp hair	Occasional [Orphanet]	6 / 7739
18	(HPO:0000218)	High palate		356 / 7739
19	(HPO:0000474)	Thickened nuchal skin fold		10 / 7739
20	(HPO:0000343)	Long philtrum	Frequent [Orphanet]	262 / 7739
21	(HPO:0009891)	Underdeveloped supraorbital ridges	Frequent [Orphanet]	36 / 7739
22	(HPO:0000316)	Hypertelorism		644 / 7739
23	(HPO:0005469)	Flat occiput		30 / 7739
24	(HPO:0005487)	Prominent metopic ridge	Occasional [Orphanet]	28 / 7739
25	(HPO:0000286)	Epicanthus	Occasional [Orphanet]	371 / 7739
26	(HPO:0000520)	Proptosis		192 / 7739
27	(HPO:0000319)	Smooth philtrum		72 / 7739
28	(HPO:0000272)	Malar flattening		277 / 7739
29	(HPO:0000277)	Abnormality of the mandible	Occasional [Orphanet]	394 / 7739
30	(HPO:0002705)	High, narrow palate	Frequent [Orphanet]	308 / 7739
31	(HPO:0000431)	Wide nasal bridge		290 / 7739
32	(HPO:0000357)	Abnormal location of ears	Frequent [Orphanet]	328 / 7739
33	(HPO:0000369)	Low-set ears		372 / 7739
34	(HPO:0008229)	Thyroid lymphangiectasia		2 / 7739
35	(HPO:0000774)	Narrow chest		167 / 7739
36	(HPO:0100259)	Postaxial polydactyly		85 / 7739
37	(HPO:0001162)	Postaxial hand polydactyly		119 / 7739
38	(HPO:0002808)	Kyphosis	Occasional [Orphanet]	289 / 7739
39	(HPO:0001172)	Abnormality of the thumb	Occasional [Orphanet]	103 / 7739
40	(HPO:0001561)	Polyhydramnios	Frequent [Orphanet]	191 / 7739
41	(HPO:0002250)	Abnormality of the large intestine	Occasional [Orphanet]	32 / 7739
42	(HPO:0002243)	Protein-losing enteropathy		8 / 7739
43	(HPO:0004299)	Hernia of the abdominal wall	Occasional [Orphanet]	176 / 7739
44	(HPO:0001744)	Splenomegaly		337 / 7739
45	(HPO:0000023)	Inguinal hernia		181 / 7739
46	(HPO:0003270)	Abdominal distention		46 / 7739
47	(HPO:0002240)	Hepatomegaly		467 / 7739
48	(HPO:0001541)	Ascites		94 / 7739
49	(HPO:0006273)	Pancreatic lymphangiectasis		1 / 7739
50	(HPO:0001399)	Hepatic failure	Very frequent [Orphanet]	80 / 7739
51	(HPO:0000998)	Hypertrichosis		52 / 7739
52	(HPO:0004554)	Generalized hypertrichosis		30 / 7739
53	(HPO:0002230)	Generalized hirsutism		32 / 7739
54	(HPO:0001007)	Hirsutism		91 / 7739
55	(HPO:0030680)	Abnormality of cardiovascular system morphology	Occasional [Orphanet]	355 / 7739
56	(HPO:0001629)	Ventricular septal defect		316 / 7739
57	(HPO:0003075)	Hypoproteinemia		27 / 7739
58	(HPO:0001004)	Lymphedema		62 / 7739
59	(HPO:0002901)	Hypocalcemia	Frequent [Orphanet]	56 / 7739
60	(HPO:0006521)	Pulmonary lymphangiectasia		6 / 7739
61	(HPO:0001252)	Muscular hypotonia		990 / 7739
62	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
63	(HPO:0010547)	Muscle flaccidity		466 / 7739
64	(HPO:0001324)	Muscle weakness		859 / 7739
65	(HPO:0011420)	Death	Very frequent [Orphanet]	184 / 7739
66	(HPO:0002119)	Ventriculomegaly	Occasional [Orphanet]	253 / 7739
67	(HPO:0001522)	Death in infancy		275 / 7739
68	(HPO:0011800)	Midface retrusion		221 / 7739
69	(OMIM)	Mullerian duct remnants (uterus and fallopian tube in male patients)		1 / 7739
70	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
71	(OMIM)	Stomach, jejunal, and ileal lymphangiectasis		1 / 7739
72	(OMIM)	Long thin upper lip		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Urioste et al. (1993) reported the cases of 3 unrelated newborn males with a previously unreported constellation of congenital anomalies. They presented with prenatal growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All had male ... Urioste et al. (1993) reported the cases of 3 unrelated newborn males with a previously unreported constellation of congenital anomalies. They presented with prenatal growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All had male external genitalia with cryptorchidism, and 2 of them had a small penis. Necropsies showed similar internal anomalies: mullerian duct remnants, lymphangiectasia, and renal anomalies. The karyotype was normal (46,XY) in skin fibroblasts and peripheral blood lymphocytes. Because one of the patients had a previously born brother with similar anomalies, Urioste et al. (1993) suspected that this new entity represented either an autosomal recessive or an X-linked disorder. One of the infants showed a prostate, histologically normal, around the neck of the bladder, a uterus and fallopian tubes, both histologically well developed, and an atretic vagina. The testes were attached at the end of the fallopian tubes. The parents were nonconsanguineous in each case. One patient died at 17 days, the second at the fourth month of life, and the third at 54 days of life. All had hypoproteinemia. One of the patients had intestinal lymphangiectasia, and another had lymphangiectasia of the thyroid, pancreas, and lungs. The third patient had protein-losing enteropathy. In all, death was attributed to hepatic failure. The evidence for this was not provided; the hypoproteinemia was presumably due to protein-losing enteropathy. Van Haelst et al. (2001) reported a sibship with protein-losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The first sib was born with a protein-losing enteropathy, craniofacial anomalies, and renal defects. At 1 year of age, she died of severe complications of the protein-losing enteropathy and respiratory distress. Her brother was a cytogenetically normal male fetus identified by prenatal ultrasound at 19 weeks with similar anomalies. The pregnancy was terminated at 20 weeks. Autopsy showed mullerian duct remnants. These cases were thought to confirm the Urioste syndrome. Although the syndrome had previously been reported only in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggested it is an autosomal recessive entity. Bellini et al. (2001) described 2 newborn brothers with persistence of mullerian duct derivatives, intestinal lymphangiectasia, hypertrophied dental alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia.

Symptoms & Signs

	Field	Query
	Disease
	Symptom