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Cornelia de Lange syndrome
5 OMIM references -
5 associated genes
95 signs/symptoms
PROTEIN INTERACTIONS: 1
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
1 OMIM reference -
1 associated gene
No signs/symptoms info
Cornelia de Lange syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

HDAC8
(UniProt - OMIM)
 RPS14
(UniProt - OMIM)
NIPBL
(UniProt - OMIM)
RAD21
(UniProt - OMIM)
SMC1A
(UniProt - OMIM)
SMC3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RAD21
(0.63)
RPS14


Citations in the biomedical literature:


Cornelia de Lange syndrome
HDAC8 NIPBL RAD21 SMC1A SMC3
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
RPS14



Cornelia de Lange syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

Synonym(s):
- Brachmann-de Lange syndrome
Synonym(s):
- 5q- 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 (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
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:
(no data available)
External references:
5 OMIM references -
1 MeSH reference: D003635
External references:
1 OMIM reference -
No MeSH references
Cornelia de Lange syndrome

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


Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

(no data available)