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Townes-Brocks syndrome
1 OMIM reference -
1 associated gene
60 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
Septo-optic dysplasia
1 OMIM reference -
6 associated genes
34 signs/symptoms
Townes-Brocks syndrome
Septo-optic dysplasia

SALL1
(UniProt - OMIM)
 FGFR1
(UniProt - OMIM)
HESX1
(UniProt - OMIM)
OTX2
(UniProt - OMIM)
PROKR2
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
SOX3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SALL1
(0.63)
SOX2


Citations in the biomedical literature:


Townes-Brocks syndrome
SALL1
Septo-optic dysplasia
FGFR1 HESX1 OTX2 PROKR2 SOX2 SOX3



Townes-Brocks syndrome
Septo-optic dysplasia

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
Synonym(s):
- De Morsier syndrome
- SOD
- Septo-optic dysplasia spectrum
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
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536974
External references:
1 OMIM reference -
1 MeSH reference: D025962
COMMON
SIGNS 		- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Constipation
- Corpus callosum / septum pellucidum total / partial agenesis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micropenis / small penis / agenesis
- Short stature / dwarfism / nanism
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Townes-Brocks syndrome
Septo-optic dysplasia

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

Frequent
- Anus ectopia / anteposition / malposition
- Clinodactyly of fifth finger
- 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

Occasional
- 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
- Conjunctival tumor / epibulbar dermoid
- 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
- Late puberty / hypogonadism / hypogenitalism
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Macrostomia / big mouth
- Oligodactyly / ectrodactyly of toes
- Patent ductus arteriosus
- Pulmonary valve atresia / stenosis / narrowing
- Retinoschisis / retinal / chorioretinal coloboma
- 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


Very frequent
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Septo-optic dysplasia

Frequent
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Nystagmus
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Antenatal exposure : alcohol
- Asthenia / fatigue / weakness
- Autism / autistic disoders
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Diabetes insipidus
- Dry / squaly skin / exfoliation
- Generalized obesity
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Maternal diabetes
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Sensorineural deafness / hearing loss
- Sleep and vigilance disorders
- Thirst
- Tracheo-esophageal fistula / esophageal atresia / stenosis