ODCs

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Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Lacrimo-auriculo-dento-digital syndrome

1 OMIM reference -
3 associated genes
52 signs/symptoms

Cutis gyrata - acanthosis nigricans - craniosynostosis

Lacrimo-auriculo-dento-digital syndrome

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


COMMON GENES	FGFR2 FGFR3


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

Citations in the biomedical literature:

Cutis gyrata - acanthosis nigricans - craniosynostosis		Lacrimo-auriculo-dento-digital syndrome
	Synonym(s): - Beare-Stevenson cutis gyrata syndrome		Synonym(s): - LADD syndrome - LARD syndrome - Lacrimo-auriculo-radio-dental syndrome - Levy-Hollister syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		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 (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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Autosomal dominant inheritance - Choanal atresia - Ptosis - Small / hypoplastic / adherent / absent ear lobe

Cutis gyrata - acanthosis nigricans - craniosynostosis		Lacrimo-auriculo-dento-digital syndrome
	Very frequent - Acanthosis nigricans - Anomalies of ear and hearing - Anomalies of skin, subcutaneous tissue and mucosae - Depressed nasal bridge - Depressed premaxillary region / midface - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Face / facial anomalies - Flat cheek bones / malar hypoplasia - Long / large ear - Mid-facial hypoplasia / short / small midface - Palmoplantar hyperkeratosis / keratoderma - Pigmented naevi / naevus pigmentosus / lentigo - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Skull / cranial anomalies - Structural anomalies of the pancreas - Subcutaneous nodules / lipomas / tumefaction / swelling - Turricephaly / oxycephaly / acrocephaly - Visceral angiomatosis (excluding skin) Frequent - Bifid scrotum - Craniostenosis / craniosynostosis / sutural synostosis - High vaulted / narrow palate - Horizontal folds on scrotum Occasional - Anomalies of eyes and vision - Anteverted nares / nostrils - Anus ectopia / anteposition / malposition - Chronic arterial hypertension - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Helix thickened / sculpted - Hydrocephaly - Hypertelorism - Microstomia / little mouth - Nails anomalies - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - 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 - Tooth shape anomaly Frequent - 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 - Broad forehead - 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 - Micrognathia / retrognathia / micrognathism / retrognathism - Nephrosclerosis - 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