ODCs

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Lacrimo-auriculo-dento-digital syndrome

1 OMIM reference -
3 associated genes
52 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Proximal 16p11.2 microdeletion syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

Lacrimo-auriculo-dento-digital syndrome

Proximal 16p11.2 microdeletion syndrome

FGF10	(UniProt - OMIM)	SH2B1	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.77)	SH2B1

Citations in the biomedical literature:

Lacrimo-auriculo-dento-digital syndrome		Proximal 16p11.2 microdeletion syndrome
	Synonym(s): - LADD syndrome - LARD syndrome - Lacrimo-auriculo-radio-dental syndrome - Levy-Hollister syndrome		Synonym(s): - Proximal del(16)(p11.2) - Proximal monosomy 16p11.2

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Broad forehead - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Micrognathia / retrognathia / micrognathism / retrognathism

Lacrimo-auriculo-dento-digital syndrome		Proximal 16p11.2 microdeletion syndrome
	Very frequent - Autosomal dominant inheritance - Broad / bifid thumb - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Clinodactyly of toes - Complete / partial microdontia - Conductive deafness / hearing loss - Congenital alacrimia - Defect / anomaly of lacrimal system - Enamel anomaly - External ear anomalies - Fingerlike / triphalangeal thumb - Folded helix - Small / hypoplastic / adherent / absent ear lobe - Tooth shape anomaly Frequent - Anodontia / oligodontia / hypodontia - Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct - Antihelix anomaly - Broad / bifid big toe - Clinodactyly of fifth finger - Corneal ulceration / perforation - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Mouth dryness / xerostomia - Multiple caries - Oral synechiae / abnormal frenulae - Preaxial polydactyly (hand) - Sensorineural deafness / hearing loss - Syndactyly of fingers / interdigital palm - Telecanthus / canthal dystopy - Thumb anomalies (excluding hypoplasia) - Visual loss / blindness / amblyopia Occasional - Agenesis / hypoplasia / aplasia of kidneys - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Choanal atresia - Cleft lip and palate - Deepset eyes / enophthalmos - High forehead - Hypospadias / epispadias / bent penis - Large fontanelle / delayed fontanelle closure - Nephrosclerosis - Ptosis - Radial club hand - Radioulnar synostosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Renal disease / nephropathy - Rib structure anomalies - Stillbirth / neonatal death - Taurodontia - Thumb hypoplasia / aplasia / absence		Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Autism / autistic disoders - EEG anomalies - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mid-facial hypoplasia / short / small midface - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of the optic nerve - Diaphragmatic hernia / defect / agenesis - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastric / pyloric stenosis - Generalized obesity - Hyperactivity / attention deficit - Hypertelorism - Hypotonia - Myopia - Psychosis / schizophrenia / maniac disorder - Scoliosis - Strabismus / squint - Syringomelia - Upper limb polydactyly / hexadactyly - Vertebral segmentation anomaly / hemivertebrae