Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

BNAR syndrome

BNAR syndrome is an autosomal recessive disorder caused by mutations of the FREM1 gene. It characterize by various malfomations such as bifid nose and anorectal and renal anomalies.


The prevalence is estimated of less than 1 per 1,000,000 life birth.


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
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



Al-Gazali LI et al. (2002) An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.


Alazami AM et al. (2009) FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.


Slavotinek AM et al. (2011) Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.


OMIM.ORG article

Omim 608980 [^]

Orphanet article

Orphanet ID 217266 [^]
Update: April 29, 2019