Acrocephalosyndactyly type I
- Synonyms
- ACS 1; Acrocephalo-syndactyly type 1; Apert syndrome; Syndactylic oxycephaly
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Choanal atresia
Choanal atresia
- MedGen UID: 3395
- Concept ID: C0008297
- Finding: Congenital Abnormality
Abnormality of head or neck
- Choanal stenosis
Choanal stenosis
- MedGen UID: 108427
- Concept ID: C0584837
- Finding: Finding
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Delayed eruption of teeth
Delayed eruption of teeth
- MedGen UID: 68678
- Concept ID: C0239174
- Finding: Finding
Abnormality of head or neck
- Dental malocclusion
Dental malocclusion
- MedGen UID: 9869
- Concept ID: C0024636
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Flat face
Flat face
- MedGen UID: 342829
- Concept ID: C1853241
- Finding: Finding
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Narrow palate
Narrow palate
- MedGen UID: 278045
- Concept ID: C1398312
- Finding: Finding
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Thin upper lip vermilion
Thin upper lip vermilion
- MedGen UID: 355352
- Concept ID: C1865017
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Broad distal hallux
Broad distal hallux
- MedGen UID: 350166
- Concept ID: C1863403
- Finding: Finding
Abnormality of limbs
- Broad distal phalanx of the thumb
Broad distal phalanx of the thumb
- MedGen UID: 350887
- Concept ID: C1863402
- Finding: Finding
Abnormality of limbs
- Broad hallux
Broad hallux
- MedGen UID: 401165
- Concept ID: C1867131
- Finding: Finding
Abnormality of limbs
- Broad thumb
Broad thumb
- MedGen UID: 140880
- Concept ID: C0426891
- Finding: Finding
Abnormality of limbs
- Cutaneous finger syndactyly
Cutaneous finger syndactyly
- MedGen UID: 866898
- Concept ID: C4021254
- Finding: Congenital Abnormality
Abnormality of limbs
- Cutaneous syndactyly
Cutaneous syndactyly
- MedGen UID: 396250
- Concept ID: C1861921
- Finding: Congenital Abnormality
Abnormality of limbs
- Cutaneous syndactyly of toes
Cutaneous syndactyly of toes
- MedGen UID: 320423
- Concept ID: C1834737
- Finding: Congenital Abnormality
Abnormality of limbs
- Finger syndactyly
Finger syndactyly
- MedGen UID: 65139
- Concept ID: C0221352
- Finding: Congenital Abnormality
Abnormality of limbs
- Humeroradial synostosis
Humeroradial synostosis
- MedGen UID: 418931
- Concept ID: C2930865
- Finding: Disease or Syndrome
Abnormality of limbs
- Limited elbow movement
Limited elbow movement
- MedGen UID: 337930
- Concept ID: C1849955
- Finding: Finding
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Preaxial hand polydactyly
Preaxial hand polydactyly
- MedGen UID: 237235
- Concept ID: C1395852
- Finding: Congenital Abnormality
Abnormality of limbs
- Rhizomelic arm shortening
Rhizomelic arm shortening
- MedGen UID: 409853
- Concept ID: C1969532
- Finding: Finding
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Broad distal hallux
- Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
- Abnormality of the breast
- Wide intermamillary distance
Wide intermamillary distance
- MedGen UID: 473489
- Concept ID: C1827524
- Finding: Finding
Abnormality of the breast
- Wide intermamillary distance
- Abnormality of the cardiovascular system
- Overriding aorta
Overriding aorta
- MedGen UID: 120559
- Concept ID: C0265886
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Overriding aorta
- Abnormality of the digestive system
- Congenital hypertrophic pyloric stenosis
Congenital hypertrophic pyloric stenosis
- MedGen UID: 196010
- Concept ID: C0700639
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Ectopic anus
Ectopic anus
- MedGen UID: 75606
- Concept ID: C0266231
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Esophageal atresia
Esophageal atresia
- MedGen UID: 4545
- Concept ID: C0014850
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Congenital hypertrophic pyloric stenosis
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Vaginal atresia
Vaginal atresia
- MedGen UID: 232948
- Concept ID: C1321884
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the immune system
- Acne
Acne
- MedGen UID: 152379
- Concept ID: C0702166
- Finding: Disease or Syndrome
Abnormality of the immune system
- Chronic otitis media
Chronic otitis media
- MedGen UID: 75751
- Concept ID: C0271441
- Finding: Disease or Syndrome
Abnormality of the immune system
- Acne
- Abnormality of the integument
- Hyperhidrosis
Hyperhidrosis
- MedGen UID: 5690
- Concept ID: C0020458
- Finding: Finding
Abnormality of the integument
- Hyperhidrosis
- Abnormality of the musculoskeletal system
- Acrobrachycephaly
Acrobrachycephaly
- MedGen UID: 350164
- Concept ID: C1863395
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Brachyturricephaly
Brachyturricephaly
- MedGen UID: 387833
- Concept ID: C1857484
- Finding: Finding
Abnormality of the musculoskeletal system
- Cervical C5/C6 vertebrae fusion
Cervical C5/C6 vertebrae fusion
- MedGen UID: 870841
- Concept ID: C4025301
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Coronal craniosynostosis
Coronal craniosynostosis
- MedGen UID: 344694
- Concept ID: C1856266
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Craniosynostosis 4
Craniosynostosis 4
- MedGen UID: 322167
- Concept ID: C1833340
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Craniosynostosis syndrome
Craniosynostosis syndrome
- MedGen UID: 1163
- Concept ID: C0010278
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Delayed cranial suture closure
Delayed cranial suture closure
- MedGen UID: 75805
- Concept ID: C0277828
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed epiphyseal ossification
Delayed epiphyseal ossification
- MedGen UID: 351324
- Concept ID: C1865200
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Large fontanelles
Large fontanelles
- MedGen UID: 105329
- Concept ID: C0456132
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus carinatum
Pectus carinatum
- MedGen UID: 57643
- Concept ID: C0158731
- Finding: Finding
Abnormality of the musculoskeletal system
- Sagittal craniosynostosis
Sagittal craniosynostosis
- MedGen UID: 140921
- Concept ID: C0432123
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Shallow orbits
Shallow orbits
- MedGen UID: 351328
- Concept ID: C1865244
- Finding: Finding
Abnormality of the musculoskeletal system
- Synostosis of carpal bones
Synostosis of carpal bones
- MedGen UID: 322856
- Concept ID: C1836193
- Finding: Finding
Abnormality of the musculoskeletal system
- Acrobrachycephaly
- Abnormality of the nervous system
- Abnormal morphology of the limbic system
Abnormal morphology of the limbic system
- MedGen UID: 400282
- Concept ID: C1863392
- Finding: Finding
Abnormality of the nervous system
- Absent septum pellucidum
Absent septum pellucidum
- MedGen UID: 96561
- Concept ID: C0431371
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Arachnoid cyst
Arachnoid cyst
- MedGen UID: 86860
- Concept ID: C0078981
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Chiari type I malformation
Chiari type I malformation
- MedGen UID: 196689
- Concept ID: C0750929
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Megalencephaly
Megalencephaly
- MedGen UID: 65141
- Concept ID: C0221355
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Posterior fossa cyst
Posterior fossa cyst
- MedGen UID: 341753
- Concept ID: C1857353
- Finding: Finding
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Abnormal morphology of the limbic system
- Abnormality of the respiratory system
- Anomalous tracheal cartilage
Anomalous tracheal cartilage
- MedGen UID: 400285
- Concept ID: C1863406
- Finding: Finding
Abnormality of the respiratory system
- Anomalous tracheal cartilage
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Hearing impairment
- Growth abnormality
- Growth abnormality
Growth abnormality
- MedGen UID: 808205
- Concept ID: C0262361
- Finding: Finding
Growth abnormality
- Growth abnormality
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