Synonym(s): - Imperforate anus with hand, foot and ear anomalies - REAR syndrome - Renal-ear-anal-radial syndrome - Sensorineural deafness with imperforate anus and hypoplastic thumbs - TBS - Townes syndrome
Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: C536974
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SALL1	Q9NSC2	602218

- Anus / rectum anomalies
- Autosomal dominant inheritance
- External ear anomalies
- Fingerlike / triphalangeal thumb
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Preauricular / branchial tags / appendages
- Preaxial polydactyly (hand)

- Anus ectopia / anteposition / malposition
- Clinodactyly of fifth finger
- Constipation
- Flat foot
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Foot anomalies
- Hearing loss / hypoacusia / deafness
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Renal failure
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Anomalies of spine, vertebrae and pelvis
- Anomalies of the ribs
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Arnold-Chiari anomaly
- Atrial septal defect / interauricular communication
- Bifid scrotum
- Blepharophimosis / short palpebral fissures
- Broad / bifid big toe
- Broad / bifid thumb
- Cardiac septal defect
- Cataract / lens opacification
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Conjunctival tumor / epibulbar dermoid
- Corpus callosum / septum pellucidum total / partial agenesis
- Cranial nerves palsy
- Ectopic / horseshoe / fused kidneys
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypospadias / epispadias / bent penis
- Hypothyroidy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Macrostomia / big mouth
- Micropenis / small penis / agenesis
- Oligodactyly / ectrodactyly of toes
- Patent ductus arteriosus
- Pulmonary valve atresia / stenosis / narrowing
- Retinoschisis / retinal / chorioretinal coloboma
- Short stature / dwarfism / nanism
- Strabismus / squint
- Syndactyly of toes
- Tetralogy of Fallot / trilogy of Fallot
- Tragus abnormal / absent
- Ulnar deviation of fingers
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis
- Uterine / uterus / Fallopian tubes anomalies
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation
- Vesicorenal / vesicoureteral reflux
- Visual loss / blindness / amblyopia