ODCs

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Cornelia de Lange syndrome

5 OMIM references -
5 associated genes
95 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 19

Alpha-thalassemia - X-linked intellectual deficit syndrome

1 OMIM reference -
1 associated gene
55 signs/symptoms

Cornelia de Lange syndrome

Alpha-thalassemia - X-linked intellectual deficit syndrome

HDAC8	(UniProt - OMIM)	ATRX	(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)	SMC1A SMC3	(0.63) (0.49)	ATRX ATRX

Citations in the biomedical literature:

Cornelia de Lange syndrome		Alpha-thalassemia - X-linked intellectual deficit syndrome
	Synonym(s): - Brachmann-de Lange syndrome		Synonym(s): - ATR-X 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 developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare hematologic disease - Rare neurologic disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 5 OMIM references - 1 MeSH reference: D003635		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anteverted nares / nostrils - Autism / autistic disoders - Clinodactyly of fifth finger - Colonic / intestinal volvulus - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Micropenis / small penis / agenesis - Myopia - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes

Cornelia de Lange syndrome		Alpha-thalassemia - X-linked intellectual deficit syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - 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 - High arched eyebrows - High vaulted / narrow palate - Hirsutism / hypertrichosis / Increased body hair - Hypertonia / spasticity / rigidity / stiffness - Long philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low hair line (back) - Low hair line-front - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Proximally set thumb - Short foot / brachydactyly of toes - Short limbs / micromelia / brachymelia - Short neck - Short / small nose - Small hand / acromicria - Syndactyly of toes - Synophris / synophrys - Thick / bushy eyebrows - Thin / retracted lips Frequent - Anodontia / oligodontia / hypodontia - Blepharitis / eyelid inflammation - 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 - Hyperactivity / attention deficit - Hypoplastic / absent nipples - Hypospadias / epispadias / bent penis - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Microcornea - Multicystic kidney / renal dysplasia - Obsessive-compulsive disorder - Prematurity - Ptosis - Radioulnar synostosis - Simian crease / transverse / unique palmar crease - Sleep and vigilance disorders - Vesicorenal / vesicoureteral reflux Occasional - Atrial septal defect / interauricular communication - Cataract / lens opacification - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - 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 - 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 - Strabismus / squint - Truncal obesity - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Uterine / uterus / Fallopian tubes anomalies - Ventricular septal defect / interventricular communication		Very frequent - Ambiguous genitalia - Face / facial anomalies - Flat face - Hypertelorism - Large fontanelle / delayed fontanelle closure - Male pseudohermaphrodism / lack of virilisation - Psychic / behavioural troubles - Structural anomalies of the genital system - X-linked recessive inheritance Frequent - Epicanthic folds - Everted lower lip - Flattened nose - Hemoglobinosis / hemoglobinopathy - Macroglossia / tongue protrusion / proeminent / hypertrophic - Mid-facial hypoplasia / short / small midface - Telecanthus / canthal dystopy - Thick lips Occasional - Anaemia - Anomalies of teeth and dentition - Auto-aggressivity / auto-mutilation - Constipation - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Corpus callosum / septum pellucidum total / partial agenesis - Death in infancy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Encephalitis - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hemiplegia / diplegia / hemiparesia / limb palsy - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Movement disorder - Nausea / vomiting / regurgitation / merycism / hyperemesis - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Recurrent urinary infections - Renal / kidney anomalies - Short hand / brachydactyly - Visual loss / blindness / amblyopia