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3 OMIM references -
3 associated genes
64 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 18
15 OMIM references -
16 associated genes
101 signs/symptoms
Treacher-Collins syndrome
Fanconi anemia

POLR1C BRCA2
POLR1D BRIP1
TCOF1 ERCC4
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
PALB2
RAD51C
SLX4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCOF1
(0.63)
SLX4



Citations in the biomedical literature:


Treacher-Collins syndrome
POLR1C POLR1D TCOF1
Fanconi anemia
BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC
FANCD2 FANCE FANCF FANCG FANCI FANCL
FANCM PALB2 RAD51C SLX4



Treacher-Collins syndrome
Fanconi anemia

Synonym(s):
- Franceschetti-Klein syndrome
- Mandibulofacial dysostosis without limb anomalies

Synonym(s):
- Fanconi pancytopenia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
3 OMIM references -
No MeSH references
External references:
15 OMIM references -
1 MeSH reference: D005199


COMMON
SIGNS
- Anomalies of eyelids, eyelashes and lacrimal system
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Cataract / lens opacification
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Hypertelorism
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism
- Patent ductus arteriosus
- Strabismus / squint
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia


Treacher-Collins syndrome
Fanconi anemia

Very frequent
- Autosomal dominant inheritance
- Bone / osseous hypoplasia
- Dental malocclusion
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Facial dysmorphism
- Flat cheek bones / malar hypoplasia
- Hypoplastic mandibula / partial absence of the mandibula
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Mid-facial hypoplasia / short / small midface
- Small face
- Structural anomalies of middle ear / ossicles / tympanic cavity

Frequent
- Absent / decreased lashes
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Broad nasal root
- Coloboma of the eyelid
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis
- Low hair line-front
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Adrenal glands anomalies
- Anomalies of spine, vertebrae and pelvis
- Brachycephaly / flat occiput
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Cleft lip
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Enamel anomaly
- Encephalocele / exencephaly
- Enchondroses
- Facial cleft
- Glossoptosis
- Hair and scalp anomalies
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Limited opening of the mouth
- Macrostomia / big mouth
- Micropenis / small penis / agenesis
- Preauricular / branchial tags / appendages
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thymic aplasia / hypoplasia
- Tooth shape anomaly


Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anaemia
- Anomalies of the hematological system
- Bone marrow failure / pancytopenia
- Chromosome breakage
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Leukopenia / hypoleukocytosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Short stature / dwarfism / nanism
- Thrombocytopenia / thrombopenia
- Thumb anomalies (excluding hypoplasia)
- Upper limb segmental anomalies

Frequent
- Blepharophimosis / short palpebral fissures
- Cardiac septal defect
- Microcephaly
- Neoplasms / tumors
- Scoliosis
- Structural anomalies of the kidney and the urinary tract

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Aniridia / iris hypoplasia
- Anomalies of ear and hearing
- Anomalies of eyes and vision
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Astigmatism
- Atrial septal defect / interauricular communication
- Azoospermia / oligospermia / asthenospermia
- Bladder and ureter anomalies
- Cafe-au-lait spot
- Cardiomyopathy / hypertrophic / dilated
- Carotid artery anomalies
- Clinodactyly of fifth finger
- Cranial nerves palsy
- Dilated cerebral ventricles without hydrocephaly
- Dolichocephaly / scaphocephaly
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Duodenal atresia / stenosis / megaduodenum
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- External ear anomalies
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fingerlike / triphalangeal thumb
- Flat foot
- Foot anomalies
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hydrocephaly
- Hypereflexia
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic / aplastic uvula
- Hypospadias / epispadias / bent penis
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Intrauterine growth retardation
- Irregular length / shape of fingers
- Late puberty / hypogonadism / hypogenitalism
- Meckel diverticulum
- Myelodysplastic syndrome
- Nystagmus
- Oligoamnios
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Phimosis / preputial adhesions / paraphimosis
- Proptosis / exophthalmos
- Ptosis
- Recurrent urinary infections
- Renal failure
- Sloping forehead
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Spina bifida
- Stillbirth / neonatal death
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the nervous system
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Terminal broadening / clubbing of toes
- Testis anomalies
- Tetralogy of Fallot / trilogy of Fallot
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Umbilical hernia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Uterine / uterus / Fallopian tubes anomalies
- Weight loss / loss of appetite / break in weight curve / general health alteration