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Antley-Bixler syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Jackson-Weiss syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Antley-Bixler syndrome

Jackson-Weiss syndrome

FGFR2

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	FGFR2

Citations in the biomedical literature:

Antley-Bixler syndrome		Jackson-Weiss syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Craniosynostosis - midfacial hypoplasia - foot abnormalities - JWS

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

	External references: 1 OMIM reference - 1 MeSH reference: C537780		External references: 1 OMIM reference - 1 MeSH reference: C537559


COMMON SIGNS	- Flat supraorbital ridge - Frontal bossing / prominent forehead - Hypertelorism - Proptosis / exophthalmos - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly

Antley-Bixler syndrome		Jackson-Weiss 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 - 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 - 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 - Long philtrum - Microstomia / little mouth - Mutiple fractures / bone fragility - Talipes-varus / metatarsal varus		Very frequent - Autosomal dominant inheritance - Broad / bifid big toe - Mid-facial hypoplasia / short / small midface - Syndactyly of toes - Tarsal anomaly / fusion / synostosis Frequent - Beaked nose - High vaulted / narrow palate - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Prognathism / prognathia - Ptosis Occasional - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Oligodactyly / ectrodactyly of toes - Preaxial polydactyly of toes / big toe duplication - Symphalangy of fingers - Syndactyly of fingers / interdigital palm