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Pfeiffer syndrome type 3
1 associated gene
44 connected diseases
39 signs/symptoms
Disease Type of connection
Lacrimo-auriculo-dento-digital syndrome
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Saethre-Chotzen syndrome
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Aplasia of lacrimal and salivary glands
Autosomal agammaglobulinemia
SHORT syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Oculootodental syndrome
Otodental syndrome
Acute promyelocytic leukemia
Autosomal dominant hyper-IgE syndrome
Juvenile myelomonocytic leukemia
Laron syndrome with immunodeficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Aldosterone-producing adenoma with seizures and neurological abnormalities
Autosomal dominant hypophosphatemic rickets
Hypercalcemic tumoral calcinosis
Sinoatrial node dysfunction and deafness
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
FGFR2 P21802176943
Very frequent
- Arnold-Chiari anomaly
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Broad / bifid big toe
- Broad / bifid thumb
- Depressed nasal bridge
- External auditory canal atresia / stenosis / agenesis
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Laryngomalacia
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Short big toe
- Short / small nose
- Stenosis of aqueduc of Sylvius
- Thumb hypoplasia / aplasia / absence
- Tracheomalacia / tracheobronchomalacia
- Turricephaly / oxycephaly / acrocephaly

Frequent
- Choanal atresia
- Early death / lethality
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cranial hypertension
- Ectopic / horseshoe / fused kidneys
- Hearing loss / hypoacusia / deafness
- 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