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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
95 signs/symptoms
Inherited congenital spastic tetraplegia
Cornelia de Lange syndrome

ADD3 HDAC8
GAD1 NIPBL
KANK1 RAD21
SMC1A
SMC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ADD3
(0.72)
HDAC8



Citations in the biomedical literature:


Inherited congenital spastic tetraplegia
ADD3 GAD1 KANK1
Cornelia de Lange syndrome
HDAC8 NIPBL RAD21 SMC1A SMC3



Inherited congenital spastic tetraplegia
Cornelia de Lange syndrome

Synonym(s):
- Inherited congenital spastic quadriplegia

Synonym(s):
- Brachmann-de Lange syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
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):
(no data available)
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: -
Type of inheritance: autosomal recessive
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:
2 OMIM references -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: D003635

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


Inherited congenital spastic tetraplegia

(no data available)