GTR Home > Conditions/Phenotypes > Acrocephalosyndactyly type I

Disease characteristics

Excerpted from the GeneReview: FGFR-Related Craniosynostosis Syndromes
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.

Associated genes

  • Also known as: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25, FGFR2
    Summary: fibroblast growth factor receptor 2

Clinical features

  • Pyloric stenosis
  • Strabismus
  • High forehead
  • Large fontanelles
  • Hypertension
  • Respiratory insufficiency
  • Agenesis of corpus callosum
  • Intellectual disability
  • Brachyturricephaly
  • Arnold-Chiari malformation
  • Vertebral segmentation defect
  • Limb undergrowth
  • Flat face
  • Midface retrusion
  • Broad forehead
  • Cognitive impairment
  • Coronal craniosynostosis
  • Arnold-Chiari type I malformation
  • Malar flattening
  • Ventricular septal defect
  • Cloverleaf skull
  • Proptosis
  • Limbic malformations
  • Acrobrachycephaly
  • Humeroradial synostosis
  • Broad distal phalanx of the thumb
  • Broad distal hallux
  • Anomalous tracheal cartilage
  • Downslanted palpebral fissures
  • Shallow orbits
  • Delayed eruption of teeth
  • Hydrocephalus
  • Cleft palate
  • Cryptorchidism
  • Hydronephrosis
  • Vaginal atresia
  • Narrow palate
  • Bifid uvula
  • Abnormality of the fontanelles and cranial sutures
  • Delayed cranial suture closure
  • Mandibular prognathia
  • Hypertelorism
  • Facial asymmetry
  • Hearing impairment
  • Chronic otitis media
  • Conductive hearing impairment
  • Sensorineural hearing impairment
  • Convex nasal ridge
  • Choanal stenosis
  • Choanal atresia
  • Visual impairment
  • Optic atrophy
  • Dental malocclusion
  • Acne
  • Postaxial hand polydactyly
  • Preaxial hand polydactyly
  • Absent septum pellucidum
  • Megalencephaly
  • Growth abnormality
  • Toe syndactyly
  • Frontal bossing
  • Esophageal atresia
  • Ventriculomegaly
  • Malformation of the heart and great vessels
  • Overriding aorta
  • Ectopic anus
  • Cervical vertebrae fusion (C5/C6)
  • Synostosis of carpal bones
  • Depressed nasal bridge
  • Posterior fossa cyst
  • Aplasia/Hypoplasia of the corpus callosum
  • Aplasia/Hypoplasia of the thumb
  • Cutaneous finger syndactyly
  • Ovarian neoplasm
  • Arachnoid cyst
  • Corneal erosion
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