Bilateral microtia

Gene: SALL1

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#107480:Townes-Brocks syndrome [Microcephaly; Overfolding of superior helix; Large ears; Preauricular tags; Preauricular pits; Microtia; Satyr ear; Sensorineural hearing loss; Chorioretinal coloboma (rare); Duane anomaly (rare); Tetralogy of Fallot; Ventricular septal defect; Duodenal atresia; Imperforate anus; Anal stenosis; Anterior placement of anus; Rectovaginal/rectoperineal fistula; Gastroesophageal reflux; Umbilical hernia; Hypospadias; Bifid scrotum; Prominent midline perineal raphe; Cryptorchidism; Rectovaginal fistula; Vaginal aplasia; Bifid uterus; Hypoplastic kidneys; Multicystic kidneys; Dysplastic kidneys; Renal failure; Vesicoureteral reflux; Urethral valves; Broad thumb; Bifid thumb; Triphalangeal thumb; Preaxial polydactyly; Pseudoepiphyses of second metacarpal; Fusion of triquetrum and hamate; Absent triquetrum and navicular bones; 2-3 and 3-4 finger syndactyly; Fusion of metatarsals; Short metatarsals; Absent/hypoplastic third toe; Fifth toe clinodactyly; 3-4 toe syndactyly; Mental retardation (rarely noted); Hypothyroidism (rare)]

Publications

• PMID:10533063
• 10928856
• 10965108
• 11102974
• 11478532
• 11484202
• 11688560
• 11751684
• 12915476
• 12925729
• 14755477
• 16088922
• 16670092
• 16892410
• 17431915
• 18000979
• 18470945
• 8133838
• 8357560
• 8975705
• 9425907
• 9973281

Green List (high evidence)

MIM 107480

Created: 3 Feb 2016, 9:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Causes TOWNES-BROCKS syndrome; syndromic features

Publications

• 17431915
• 8669439