Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Urofacial syndrome

Urofacial syndrome is an autosomal recessive disorder caused by mutations of the HPSE2 gene. It is characterized by a typical facial expression and bladder voiding dysfunction.


Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
Renal-hepatic-pancreatic dysplasia
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome



Garcia-Minaur S et. al. (2001) Three new European cases of urofacial (Ochoa) syndrome.


Aydogdu O et. al. (2010) Ochoa syndrome: a spectrum of urofacial syndrome.


Derbent M et. al. (2009) Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?


Pang J et. al. (2010) Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.


Daly SB et. al. (2010) Mutations in HPSE2 cause urofacial syndrome.


None (1979) Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".


Teebi AS et. al. (1989) Urofacial syndrome.


Ochoa B et. al. (1987) Urofacial (ochoa) syndrome.


Wang CY et. al. (1997) Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24.


Wang CY et. al. (1999) Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene.


Chauve X et. al. (2000) Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.


Wang CY et. al. (2003) High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.

Update: Sept. 26, 2018