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Antley-Bixler syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

Pfeiffer syndrome type 2

1 associated gene
34 signs/symptoms

Antley-Bixler syndrome

Pfeiffer syndrome type 2

FGFR2

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	FGFR2

Citations in the biomedical literature:

Antley-Bixler syndrome		Pfeiffer syndrome type 2

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

	External references: 1 OMIM reference - 1 MeSH reference: C537780		External references: No OMIM references No MeSH references


COMMON SIGNS	- Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hypertelorism - Low set ears / posteriorly rotated ears - Proptosis / exophthalmos - Restricted joint mobility / joint stiffness / ankylosis - Short / small nose

Antley-Bixler syndrome		Pfeiffer syndrome type 2
	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 - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies Frequent - Craniostenosis / craniosynostosis / sutural synostosis - Structural anomalies of the kidney and the urinary tract Occasional - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat supraorbital ridge - Long philtrum - Microstomia / little mouth - Mutiple fractures / bone fragility - Strabismus / squint - Talipes-varus / metatarsal varus - Turricephaly / oxycephaly / acrocephaly		Very frequent - Arnold-Chiari anomaly - Autosomal dominant inheritance - Broad / bifid big toe - Broad / bifid thumb - Cloverleaf skull - Depressed nasal bridge - High forehead - High vaulted / narrow palate - Mid-facial hypoplasia / short / small midface - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Short big toe - Thumb hypoplasia / aplasia / absence Frequent - External auditory canal atresia / stenosis / agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short hand / brachydactyly - Stenosis of aqueduc of Sylvius - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Tracheomalacia / tracheobronchomalacia Occasional - Cranial hypertension - Early death / lethality - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Visual loss / blindness / amblyopia