ODCs

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Lacrimo-auriculo-dento-digital syndrome

1 OMIM reference -
3 associated genes
52 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 6

Deafness with labyrinthine aplasia, microtia, and microdontia

1 OMIM reference -
1 associated gene
24 signs/symptoms

Lacrimo-auriculo-dento-digital syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

FGF10	(UniProt - OMIM)	FGF3	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR2 FGFR3	(0.65) (0.52)	FGF3 FGF3

Citations in the biomedical literature:

Lacrimo-auriculo-dento-digital syndrome		Deafness with labyrinthine aplasia, microtia, and microdontia
	Synonym(s): - LADD syndrome - LARD syndrome - Lacrimo-auriculo-radio-dental syndrome - Levy-Hollister syndrome		Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness

	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 - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C548011


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Complete / partial microdontia - Long / large / bulbous nose - Micrognathia / retrognathia / micrognathism / retrognathism - Sensorineural deafness / hearing loss - Tooth shape anomaly

Lacrimo-auriculo-dento-digital syndrome		Deafness with labyrinthine aplasia, microtia, and microdontia
	Very frequent - Autosomal dominant inheritance - Broad / bifid thumb - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Clinodactyly of toes - 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 Frequent - Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct - Antihelix anomaly - Broad / bifid big toe - Clinodactyly of fifth finger - Corneal ulceration / perforation - Low set ears / posteriorly rotated ears - Mouth dryness / xerostomia - Multiple caries - Oral synechiae / abnormal frenulae - Preaxial polydactyly (hand) - 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 - Broad forehead - Choanal atresia - Cleft lip and palate - Deepset eyes / enophthalmos - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - 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 - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Autosomal recessive inheritance - Cranial nerve anomalies - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Structural anomalies of inner ear / cochlea / vestible / semicircular canals Frequent - Broad nasal root - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Long face - Pointed chin - Small / triangular nares / nostrils Occasional - Bifid / cleft ear lobe / ear lobe pits - Hypermetropia - Hypertelorism - Preauricular / branchial tags / appendages - Strabismus / squint - Supernumerary teeth / polyodontia - Synophris / synophrys - Tall stature / gigantism / growth acceleration