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Cornelia de Lange syndrome
5 OMIM references -
5 associated genes
134 connected diseases
95 signs/symptoms
Disease Type of connection
5p13 microduplication syndrome
Wilson-Turner syndrome
Blackfan-Diamond anemia
Hereditary nonpolyposis colon cancer
Constitutional mismatch repair deficiency syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
B-cell chronic lymphocytic leukemia
Extraskeletal Ewing sarcoma
Inflammatory myofibroblastic tumor
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Acute promyelocytic leukemia
Autoimmune polyendocrinopathy type 1
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Intermediate nemaline myopathy
Papillary or follicular thyroid carcinoma
Precursor T-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Hereditary breast and ovarian cancer syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Familial melanoma
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Male infertility with normal virilization due to meiosis defect
Autosomal recessive primary microcephaly
Achromatopsia
Cone rod dystrophy
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Retinitis pigmentosa
Cap myopathy
Giant cell glioblastoma
Gliosarcoma
Burkitt lymphoma
Extraskeletal myxoid chondrosarcoma
Isolated adermatoglyphia
Melanoma of soft part
Peripheral resistance to thyroid hormones
Pseudohypoaldosteronism type 2E
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Translocation renal cell carcinoma
Primary peritoneal carcinoma
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spondylocarpotarsal synostosis
Acute megakaryoblastic leukemia without Down syndrome
Adrenocortical carcinoma
Essential thrombocythemia
Inherited congenital spastic tetraplegia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Peters anomaly
Precursor B-cell acute lymphoblastic leukemia
17q11 microdeletion syndrome
APC-related attenuated familial adenomatous polyposis
Aceruloplasminemia
Acute myeloid leukemia with CEBPA somatic mutations
Adenosine monophosphate deaminase deficiency
Anophthalmia / microphthalmia - esophageal atresia
Argininemia
Atypical Rett syndrome
Atypical hemolytic uremic syndrome with C3 anomaly
Autosomal recessive nonsyndromic intellectual deficit
Carbamoylphosphate synthetase deficiency
Colobomatous microphthalmia
Complement component 3 deficiency
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Congenital myopathy with excess of thin filaments
Cystic fibrosis
Desmoid tumor
Desmoplastic small round cell tumor
Ewing sarcoma
Exfoliative ichthyosis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial isolated dilated cardiomyopathy
Familial papillary renal cell carcinoma
Gardner syndrome
Generalized resistance to thyroid hormone
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hepatocellular carcinoma, childhood-onset
Hereditary motor and sensory neuropathy, Okinawa type
Homozygous familial hypercholesterolemia
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Infantile cerebellar-retinal degeneration
Inherited acute myeloid leukemia
Intellectual deficit, X-linked - psychosis - macroorchidism
Isolated anophthalmia - microphthalmia
Isolated cytochrome C oxidase deficiency
Ketoacidosis due to beta-ketothiolase deficiency
MELAS syndrome
Maternally-inherited Leigh syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myeloperoxidase deficiency
Omenn syndrome
Rett syndrome
Seckel syndrome
Selective pituitary resistance to thyroid hormone
Septo-optic dysplasia
Severe congenital nemaline myopathy
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia-optic atrophy-neuropathy syndrome
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Trisomy Xq28
Turcot syndrome with polyposis
Typical nemaline myopathy
Unverricht-Lundborg disease
Wolf-Hirschhorn syndrome
X-linked distal arthrogryposis multiplex congenita
X-linked non-syndromic intellectual deficit
Young adult-onset Parkinsonism
Bloom syndrome
CLN1 disease
Fanconi anemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Synonym(s):
- Brachmann-de Lange syndrome
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare surgical thoracic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
1 MeSH reference: D003635
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anteverted nares / nostrils
- Brachycephaly / flat occiput
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Depressed nasal bridge
- Downturned mouth
- External auditory canal atresia / stenosis / agenesis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- High arched eyebrows
- High vaulted / narrow palate
- Hirsutism / hypertrichosis / Increased body hair
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low hair line (back)
- Low hair line-front
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Proximally set thumb
- Short foot / brachydactyly of toes
- Short limbs / micromelia / brachymelia
- Short neck
- Short stature / dwarfism / nanism
- Short / small nose
- Small hand / acromicria
- Syndactyly of toes
- Synophris / synophrys
- Thick / bushy eyebrows
- Thin / retracted lips

Frequent
- Anodontia / oligodontia / hypodontia
- Blepharitis / eyelid inflammation
- Clinodactyly of fifth finger
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Conductive deafness / hearing loss
- Cutis marmorata / marbled skin / livedo
- Elbow dislocation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypoplastic / absent nipples
- Hypospadias / epispadias / bent penis
- Intrauterine growth retardation
- Low set ears / posteriorly rotated ears
- Microcornea
- Micropenis / small penis / agenesis
- Multicystic kidney / renal dysplasia
- Myopia
- Obsessive-compulsive disorder
- Prematurity
- Ptosis
- Radioulnar synostosis
- Restricted joint mobility / joint stiffness / ankylosis
- Sensorineural deafness / hearing loss
- Simian crease / transverse / unique palmar crease
- Sleep and vigilance disorders
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vesicorenal / vesicoureteral reflux

Occasional
- Atrial septal defect / interauricular communication
- Autism / autistic disoders
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Colonic / intestinal volvulus
- Congenital cardiac anomaly / malformation / cardiopathy
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Diaphragmatic hernia / defect / agenesis
- Dilated cerebral ventricles without hydrocephaly
- Fetal immobility / abnormal fetal movements
- Gastric / pyloric stenosis
- Glaucoma
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypotonia
- Increased nuchal translucency
- Intestinal / gut / bowel malrotation
- Late puberty / hypogonadism / hypogenitalism
- Long / large ear
- Nystagmus
- Oligodactyly / ectrodactyly of fingers
- Pectus excavatum
- Peripheral neuropathy
- Primary amenorrhea
- Renal failure
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Truncal obesity
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Uterine / uterus / Fallopian tubes anomalies
- Ventricular septal defect / interventricular communication