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Aplasia of lacrimal and salivary glands

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Antley-Bixler syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

Aplasia of lacrimal and salivary glands

Antley-Bixler syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Aplasia of lacrimal and salivary glands		Antley-Bixler syndrome
	Synonym(s): - ALSG - Congenital absence of lacrimal puncta and salivary glands		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - 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: (no data available)		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: C537780

Antley-Bixler syndrome
	Very frequent - Anteverted nares / nostrils - Autosomal recessive inheritance - Brachycephaly / flat occiput - Camptodactyly of fingers - Congenital cardiac anomaly / malformation / cardiopathy - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Humeroradial fusion - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rib structure anomalies - Short / small nose Frequent - Choanal atresia - Craniostenosis / craniosynostosis / sutural synostosis - Proptosis / exophthalmos - Structural anomalies of the kidney and the urinary tract Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat supraorbital ridge - Hypertelorism - Long philtrum - Microstomia / little mouth - Mutiple fractures / bone fragility - Strabismus / squint - Talipes-varus / metatarsal varus - Turricephaly / oxycephaly / acrocephaly
Aplasia of lacrimal and salivary glands
(no data available)