ODCs

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Lacrimo-auriculo-dento-digital syndrome

1 OMIM reference -
3 associated genes
52 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

Pfeiffer syndrome type 3

1 associated gene
39 signs/symptoms

Lacrimo-auriculo-dento-digital syndrome

Pfeiffer syndrome type 3

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		Pfeiffer syndrome type 3
	Synonym(s): - LADD syndrome - LARD syndrome - Lacrimo-auriculo-radio-dental syndrome - Levy-Hollister syndrome		Synonym(s): (no synonyms)

	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

	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: (no data available)

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


COMMON SIGNS	- Autosomal dominant inheritance - Broad / bifid big toe - Broad / bifid thumb - Choanal atresia - High forehead - Low set ears / posteriorly rotated ears - Syndactyly of fingers / interdigital palm - Thumb hypoplasia / aplasia / absence - Visual loss / blindness / amblyopia

Lacrimo-auriculo-dento-digital syndrome		Pfeiffer syndrome type 3
	Very frequent - 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 - Clinodactyly of fifth finger - Corneal ulceration / perforation - Long / large / bulbous nose - Mouth dryness / xerostomia - Multiple caries - Oral synechiae / abnormal frenulae - Preaxial polydactyly (hand) - Sensorineural deafness / hearing loss - 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 - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypospadias / epispadias / bent penis - Large fontanelle / delayed fontanelle closure - 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 - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Depressed nasal bridge - External auditory canal atresia / stenosis / agenesis - High vaulted / narrow palate - Hypertelorism - Laryngomalacia - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Short / small nose - Stenosis of aqueduc of Sylvius - Tracheomalacia / tracheobronchomalacia - Turricephaly / oxycephaly / acrocephaly Frequent - Early death / lethality - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of toes Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cranial hypertension - Ectopic / horseshoe / fused kidneys - Hearing loss / hypoacusia / deafness - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Vesicorenal / vesicoureteral reflux