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Acrocephalosyndactyly type I(ACS1)

MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Synonyms: Acrocephalo-syndactyly type 1; ACS 1; ACS1; Apert syndrome; Syndactylic oxycephaly
SNOMED CT: Acrocephalosyndactyly type I (205258009); Apert syndrome (205258009); Acrocephalosyndactyly (Apert) (205258009)
Modes of inheritance:
 
FGFR2 (10q26.13)
 
Monarch Initiative: MONDO:0007041
OMIM®: 101200
Orphanet: ORPHA87

Definition

Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract. [from GeneReviews]

Additional descriptions

From OMIM
Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Most cases are sporadic, but autosomal dominant inheritance has been reported (Mantilla-Capacho et al., 2005). Cohen (1973) provided a review of all the 'craniosynostosis syndromes.'  http://www.omim.org/entry/101200
From MedlinePlus Genetics
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).

Craniosynostosis causes many of the characteristic facial features of Apert syndrome. Premature fusion of the skull bones prevents the head from growing normally, which leads to a sunken appearance in the middle of the face (midface hypoplasia), a beaked nose, a wrinkled forehead, and an opening in the roof of the mouth (a cleft palate). In individuals with Apert syndrome, an underdeveloped upper jaw can lead to dental problems, such as missing teeth, irregular tooth enamel, and crowded teeth.

Many individuals with Apert syndrome have vision problems due to eye abnormalities, which can include bulging eyes (exophthalmos), wide-set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), eyes that do not look in the same direction (strabismus), and shallow eye sockets (ocular proptosis). Some people with Apert syndrome have hearing loss or recurrent ear infections due to malformed ear structures.

Abnormal development of structures in the face and head can also cause partial blockage of the airways and lead to breathing difficulties in people with Apert syndrome. Craniosynostosis also affects development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.

Individuals with Apert syndrome have syndactyly of the fingers and toes. The severity of the fusion varies, although the hands tend to be more severely affected than the feet. Most commonly, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Rarely, people with Apert syndrome may have extra fingers or toes (polydactyly). Some people with Apert syndrome have abnormalities in the bones of the elbows or shoulders. These bone problems can restrict movement and impede everyday activities. In some people, abnormalities occur in both sides of the body, but in others, only one side is affected.

Additional signs and symptoms of Apert syndrome can include unusually heavy sweating (hyperhidrosis), oily skin with severe acne, or patches of missing hair in the eyebrows.  https://medlineplus.gov/genetics/condition/apert-syndrome

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Casteleyn T, Horn D, Henrich W, Verlohren S
Arch Gynecol Obstet 2022 Jul;306(1):49-57. Epub 2021 Oct 11 doi: 10.1007/s00404-021-06263-9. PMID: 34633507Free PMC Article
Agochukwu NB, Solomon BD, Muenke M
Childs Nerv Syst 2012 Sep;28(9):1447-63. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1756-2. PMID: 22872262Free PMC Article
Harley RD
Ophthalmic Surg 1985 Mar;16(3):187-95. PMID: 3887264

Recent clinical studies

Etiology

Huang F, Sweet R, Tewfik TL
Int J Pediatr Otorhinolaryngol 2004 Apr;68(4):495-501. doi: 10.1016/j.ijporl.2003.11.010. PMID: 15013619

Diagnosis

Stauffer A, Farr S
BMC Musculoskelet Disord 2020 Nov 28;21(1):788. doi: 10.1186/s12891-020-03812-2. PMID: 33248465Free PMC Article
Albuquerque MA, Cavalcanti MG
Braz Oral Res 2004 Jan-Mar;18(1):35-9. Epub 2004 Jul 20 doi: 10.1590/s1806-83242004000100007. PMID: 15273784
Singh SK, Chaturvedi R, Pal SK, Singh KK, Sinha SK, Singh SK, Agrawal JK
J Assoc Physicians India 1999 Aug;47(8):842-3. PMID: 10778643
Lefort G, Sarda P, Humeau C, Rieu D
Genet Couns 1992;3(2):107-9. PMID: 1642807
Mixter RC, David DJ, Perloff WH, Green CG, Pauli RM, Popic PM
Plast Reconstr Surg 1990 Sep;86(3):457-63. doi: 10.1097/00006534-199009000-00011. PMID: 2385663

Prognosis

Ludwig K, Salmaso R, Manara R, Cosmi E, Baldi M, Rugge M
Fetal Pediatr Pathol 2012 Dec;31(6):410-4. Epub 2012 Mar 23 doi: 10.3109/15513815.2012.659407. PMID: 22443264

Clinical prediction guides

Albuquerque MA, Cavalcanti MG
Braz Oral Res 2004 Jan-Mar;18(1):35-9. Epub 2004 Jul 20 doi: 10.1590/s1806-83242004000100007. PMID: 15273784

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