ODCs

Click node...

Lacrimo-auriculo-dento-digital syndrome

1 OMIM reference -
3 associated genes
52 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Apert syndrome

1 OMIM reference -
1 associated gene
45 signs/symptoms

Lacrimo-auriculo-dento-digital syndrome

Apert syndrome

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


COMMON GENES	FGFR2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGF10	(0.9)	FGFR2

Citations in the biomedical literature:

Lacrimo-auriculo-dento-digital syndrome		Apert syndrome
	Synonym(s): - LADD syndrome - LARD syndrome - Lacrimo-auriculo-radio-dental syndrome - Levy-Hollister syndrome		Synonym(s): - ACS1 - Acrocephalosyndactyly type 1

	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 bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D000168


COMMON SIGNS	- Autosomal dominant inheritance - Broad / bifid thumb - Choanal atresia - Conductive deafness / hearing loss - Corneal ulceration / perforation - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Large fontanelle / delayed fontanelle closure - Sensorineural deafness / hearing loss - Syndactyly of fingers / interdigital palm - Thumb hypoplasia / aplasia / absence - Visual loss / blindness / amblyopia

Lacrimo-auriculo-dento-digital syndrome		Apert syndrome
	Very frequent - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Clinodactyly of toes - Complete / partial microdontia - 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 - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Mouth dryness / xerostomia - Multiple caries - Oral synechiae / abnormal frenulae - Preaxial polydactyly (hand) - Telecanthus / canthal dystopy - Thumb anomalies (excluding hypoplasia) Occasional - Agenesis / hypoplasia / aplasia of kidneys - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Broad forehead - Cleft lip and palate - Deepset eyes / enophthalmos - High forehead - Hypospadias / epispadias / bent penis - Micrognathia / retrognathia / micrognathism / retrognathism - 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		Very frequent - Brachycephaly / flat occiput - Depressed nasal bridge - Flat face - Frontal bossing / prominent forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Proptosis / exophthalmos - Syndactyly of toes - Turricephaly / oxycephaly / acrocephaly Frequent - Beaked nose - Chronic arterial hypertension - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Prognathism / prognathia - Strabismus / squint - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Vertebral segmentation anomaly / hemivertebrae Occasional - Anus ectopia / anteposition / malposition - Arnold-Chiari anomaly - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cloverleaf skull - Congenital cardiac anomaly / malformation / cardiopathy - Dilated cerebral ventricles without hydrocephaly - Hydrocephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ovary / ovarian teratoma / germinoma - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia