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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 20

Pfeiffer syndrome type 3

1 associated gene
39 signs/symptoms

Pfeiffer syndrome type 1

Pfeiffer syndrome type 3

FGFR1	(UniProt - OMIM)		FGFR2	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)


COMMON GENES	FGFR2

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Pfeiffer syndrome type 3
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: No OMIM references No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - Hearing loss / hypoacusia / deafness - High forehead - High vaulted / narrow palate - Hypertelorism - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Short big toe - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short / small nose - Stenosis of aqueduc of Sylvius - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thumb hypoplasia / aplasia / absence

Pfeiffer syndrome type 1		Pfeiffer syndrome type 3
	(no more signs)		Very frequent - Arnold-Chiari anomaly - External auditory canal atresia / stenosis / agenesis - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Tracheomalacia / tracheobronchomalacia - Turricephaly / oxycephaly / acrocephaly Frequent - Choanal atresia - Early death / lethality - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cranial hypertension - Ectopic / horseshoe / fused kidneys - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Vesicorenal / vesicoureteral reflux - Visual loss / blindness / amblyopia