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COFS syndrome

3 OMIM references -
4 associated genes
52 connected diseases
35 signs/symptoms

Disease	Type of connection
Cockayne syndrome type 2
Cockayne syndrome type 1
Trichothiodystrophy
UV-sensitive syndrome
Cockayne syndrome type 3
Xeroderma pigmentosum complementation group G
Xeroderma pigmentosum complementation group D
Fanconi anemia
Xeroderma pigmentosum complementation group B
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Xeroderma pigmentosum complementation group A
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Hereditary breast and ovarian cancer syndrome
Xeroderma pigmentosum complementation group F
Familial prostate cancer
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
3M syndrome
Cabezas syndrome
Constitutional mismatch repair deficiency syndrome
Dedifferentiated liposarcoma
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Hereditary nonpolyposis colon cancer
Mandibular hypoplasia-deafness-progeroid syndrome
Melanoma of soft part
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Spinocerebellar ataxia type 17
Well-differentiated liposarcoma
Williams syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Familial congenital mirror movements
Osteosarcoma
Amyotrophic lateral sclerosis

Synonym(s): - Cerebrooculofacioskeletal syndrome - Pena-Shokeir syndrome type 2

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive		External references: 3 OMIM references - No MeSH references

Gene symbol	UniProt reference	OMIM reference
ERCC1	P07992	126380
ERCC2	P18074	126340
ERCC5	P28715	133530
ERCC6	Q03468	609413

Very frequent

- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Arthrogryposis
- Autosomal recessive inheritance
- Broad nasal root
- Camptodactyly of fingers
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Death in infancy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Long / large / bulbous nose
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent metopic suture
- Protruding lips
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent

- Areflexia / hyporeflexia
- Central deafness / hearing loss
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Late puberty / hypogonadism / hypogenitalism
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short neck
- Skin photosensitivity
- Visual loss / blindness / amblyopia

Occasional

- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Peripheral neuropathy
- Retinitis pigmentosa / retinal pigmentary changes
- Talipes-varus / metatarsal varus