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Pfeiffer syndrome type 3

1 associated gene
39 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Autosomal dominant hyper-IgE syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

Pfeiffer syndrome type 3

Autosomal dominant hyper-IgE syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR2	(0.63)	STAT3

Citations in the biomedical literature:

Pfeiffer syndrome type 3		Autosomal dominant hyper-IgE syndrome
	Synonym(s): (no synonyms)		Synonym(s): - AD-HIES - Autosomal dominant HIES - Autosomal dominant hyperimmunoglobulin E syndrome - Buckley syndrome - Hyperimmunoglobulin E syndrome type 1 - Hyperimmunoglobulin E-recurrent infection syndrome - Job syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula

Pfeiffer syndrome type 3		Autosomal dominant hyper-IgE syndrome
	Very frequent - Arnold-Chiari anomaly - 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 - 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		Very frequent - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Atelectasia / pulmonary collapse - Chronic skin infection / ulcerations / ulcers / cancrum - Cutaneous rash - Eczema - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Immunodeficiency / increased susceptibility to infections / recurrent infections - Pruritus / itching - Repeat respiratory infections Frequent - Anomalies of teeth and dentition - Broad nose / nasal bridge - Chronic / relapsing otitis - Cough - Deepset eyes / enophthalmos - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dysplastic / thick / grooved fingernails - Eosinophils anomalies / hypereosinophilia - Face / facial anomalies - Follicular / erythematous / edematous papules / milium - Frontal bossing / prominent forehead - Gingivitis - Hair and scalp anomalies - Hyperextensible joints / articular hyperlaxity - Mutiple fractures / bone fragility - Onyxis / paronyxis / ungual inflammation - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Scoliosis Occasional - Arterial aneurism (excluding aorta) - Autosomal recessive inheritance - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Craniostenosis / craniosynostosis / sutural synostosis - Fever / chilling - Lymphoma - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment