Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

IVIC syndrome

IVIC syndrome is an autosomal dominant disorder caused by mutations of the SALL4 gene. Malformations include the radial ray of the upper limb, eyes (strabismus), and ears (congenital hearing loss).


Only few families are published so far.


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



Paradisi I et al. (2007) IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.


Czeizel A et al. (1989) IVIC syndrome: report of a third family.


Neri G et al. (1989) IVIC syndrome report by Czeizel et al.


Sammito V et al. (1988) IVIC syndrome: report of a second family.


Arias S et al. (1980) The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.


Elçioğlu N et al. (1997) Monozygotic twins discordant for the oculo-oto-radial syndrome (IVIC syndrome).


OMIM.ORG article

Omim 147750 [^]

Orphanet article

Orphanet ID 2307 [^]
Update: April 29, 2019