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Coffin-Siris syndrome
5 OMIM references -
5 associated genes
180 connected diseases
54 signs/symptoms
Disease Type of connection
Familial rhabdoid tumor
Familial multiple meningioma
Intellectual deficit - sparse hair - brachydactyly
Atypical teratoid tumor
Neurofibromatosis type 3
6q25 microdeletion syndrome
Precursor B-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Essential thrombocythemia
Precursor T-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Giant cell glioblastoma
Congenital dyserythropoietic anemia type IV
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Williams syndrome
Pseudohypoaldosteronism type 2E
Estrogen resistance syndrome
Adrenocortical carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Synovial sarcoma
Acute promyelocytic leukemia
Squamous cell carcinoma of head and neck
Glucocorticoid resistance
CHARGE syndrome
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Omenn syndrome
Translocation renal cell carcinoma
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Autosomal recessive primary microcephaly
Autosomal dominant secondary polycythemia
Isolated adermatoglyphia
Multiple paragangliomas associated with polycythemia
Papillary or follicular thyroid carcinoma
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Burkitt lymphoma
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Miller-Dieker syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Syndromic multisystem autoimmune disease due to Itch deficiency
Peters anomaly
Premature chromosome condensation with microcephaly and intellectual deficit
46,XY partial gonadal dysgenesis
Aneurysm - osteoarthritis syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Chronic myeloid leukemia
Dedifferentiated liposarcoma
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial thoracic aortic aneurysm and aortic dissection
Follicular lymphoma
Intravascular large B-cell lymphoma
Isolated delta-storage pool disease
Primary mediastinal large B-cell lymphoma
Well-differentiated liposarcoma
Pancytopenia due to IKZF1 mutations
Myelofibrosis with myeloid metaplasia
Immunodeficiency by defective expression of HLA class 2
Uveal coloboma - cleft lip and palate - intellectual deficit
Peutz-Jeghers syndrome
Fanconi anemia
Hypocalcemic vitamin D-resistant rickets
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Alveolar soft-part sarcoma
Tyrosinemia type 2
Xeroderma pigmentosum complementation group C
Aniridia - cerebellar ataxia - intellectual deficit
Ataxia-telangiectasia variant
Autosomal dominant keratitis
Combined cervical dystonia
Common variable immunodeficiency
Constitutional mismatch repair deficiency syndrome
Familial melanoma
Familial partial lipodystrophy associated with PPARG mutations
Foveal hypoplasia - presenile cataract
Hereditary nonpolyposis colon cancer
Isolated aniridia
Isolated optic nerve hypoplasia
Mantle cell lymphoma
Melanoma and neural system tumor syndrome
Melanoma of soft part
Melanoma-pancreatic cancer syndrome
Morning glory syndrome
Non-polyposis Turcot syndrome
WAGR syndrome
Cowden syndrome
Proteus syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Autosomal dominant hyper-IgE syndrome
Inherited acute myeloid leukemia
Young adult-onset Parkinsonism
Zonular cataract
Autosomal agammaglobulinemia
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Adams-Oliver syndrome
Atrial septal defect, ostium secundum type
Cardiomyopathy - hypotonia - lactic acidosis
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Familial isolated dilated cardiomyopathy
Fuchs endothelial corneal dystrophy
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Heritable pulmonary arterial hypertension
Holt-Oram syndrome
Intermediate nemaline myopathy
Juvenile myelomonocytic leukemia
Kabuki syndrome
Left ventricular noncompaction
MODY syndrome
Nestor-Guillermo progeria syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Noonan syndrome
Oculopharyngeal muscular dystrophy
Pilocytic astrocytoma
Posterior polymorphous corneal dystrophy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Watson syndrome
Wolf-Hirschhorn syndrome
X-linked Emery-Dreifuss muscular dystrophy
Acquired idiopathic sideroblastic anemia
Acute myeloid leukemia with multilineage dysplasia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Polycythemia vera
Refractory anemia
Refractory anemia with excess blasts
Adult-onset autosomal dominant leukodystrophy
Richieri Costa-Pereira syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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 dominant
External references:
5 OMIM references -
1 MeSH reference: C536436

Very frequent
- Absent / small fingernails / anonychia of hands
- Anomalies of teeth and dentition
- Broad nose / nasal bridge
- Coarse face
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hirsutism / hypertrichosis / Increased body hair
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / thick / curved lashes / trichomegaly / polytrichia
- Microcephaly
- Short stature / dwarfism / nanism
- slow growth of the hair
- Terminal / third phalangeal bone of fingers hypoplasia
- Thick lips
- Thick / bushy eyebrows

- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Congenital cardiac anomaly / malformation / cardiopathy
- Dandy-Walker anomaly
- Depressed nasal bridge
- Elbow dislocation
- Flattened nose
- Hearing loss / hypoacusia / deafness
- Hyperextensible joints / articular hyperlaxity
- Intrauterine growth retardation
- Macrostomia / big mouth
- Nystagmus
- Patella absent / abnormal (excluding luxation)
- Repeat respiratory infections
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Absent / small toenails / anonychia of feet
- Agenesis / hypoplasia / aplasia of kidneys
- Anomalies of spine, vertebrae and pelvis
- Cataract / lens opacification
- Clavicle absent / abnormal
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Cutis marmorata / marbled skin / livedo
- Defect / anomaly of lacrimal system
- Diaphragmatic hernia / defect / agenesis
- Dilated cerebral ventricles without hydrocephaly
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- Herniae
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intervertebral disk anomaly
- Kyphosis
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Ptosis
- Short philtrum
- Simian crease / transverse / unique palmar crease
- Spina bifida occulta