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FGFR2-related bent bone dysplasia

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Pfeiffer syndrome type 3

1 associated gene
39 signs/symptoms

FGFR2-related bent bone dysplasia

Pfeiffer syndrome type 3

FGFR2

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	FGFR2

Citations in the biomedical literature:

FGFR2-related bent bone dysplasia		Pfeiffer syndrome type 3
	Synonym(s): - Perinatal lethal bent bone dysplasia		Synonym(s): (no synonyms)

	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): (no data available)		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 dominant		Epidemiological data: (no data available)

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

Pfeiffer syndrome type 3
	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
FGFR2-related bent bone dysplasia
(no data available)