Acrocephalosyndactyly

Last updated

Acrocephalosyndactyly
Other namesACS
Hands in Apert syndrome.JPG
Syndactyly in acrocephalosyndactyly (Apert)
Specialty Medical genetics

Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet (syndactyly). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development. Cranial sutures allow the skull bones to continue growing until they fuse at age 24. Premature fusing of the cranial sutures can result in alterations to the skull shape and interfere with brain growth. [2] [3] Syndactyly occurs when digits of the hands or feet are fused together. [4] When polydactyly is also present, the classification is acrocephalopolysyndactyly. [5] Polydactyly occurs when the hands or feet possess additional digits. [6] Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as the conditions are typically inherited in an autosomal dominant pattern [1] Treatment often involves surgery in early childhood to correct for craniosynostosis [7] and syndactyly. [8]

Contents

The severity of symptoms for acrocephalosyndactyly varies significantly by subtype and treatment in the early stages of life.

History

Cases of the condition have been recorded as early as the 18th century. [9]   The term acrocephalosyndactyly (from Greek ἄκρος (ákros) ‘highest, at the extremity’, κεφαλή (kephalḗ) ‘head’, σύν (syn) 'together' and δάκτυλος (daktylos) 'finger') was first applied in 1906 by French physician Eugène Apert first to describe a condition characterized by craniosynostosis and syndactyly. [10] The condition described by Apert is now known as the Apert syndrome subtype of acrocephalosyndactyly. [11] Other subtypes of acrocephalosyndactyly were characterized throughout the 20th century. [1]

Prevalence

Considering all types of acrocephalosyndactyly, one newborn baby is born with acrocephalosyndactyly for every 65,000 - 102,500 babies born. There is no difference in the amount of males and females affected by acrocephalosyndactyly. [12] [13] [14] [15]

Characteristics

Acrocephalosyndactyly presents in numerous different subtypes, however, considerable overlap in symptoms occurs. Generally, all forms of acrocephalosyndactyly are characterized by atypical craniofacial, hand, and foot characteristics, such as premature closure of the fibrous joints in between certain bones of the skull, [16] [17] fusion of certain fingers or toes, [16] [18] and/or more than the usual number of digits. [19] Some subtypes also involve structural heart variations that are present at birth. [20] [1]

Cause

Most forms of acrocephalosyndactyly or acrocephalopolysyndactyly are inherited in autosomal dominant pattern, [15] [20] [1] with the exclusion of Carpenter Syndrome which is inherited in autosomal recessive manner. De-novo variants, or genetic alterations not inherited from one's parents, in different genes were reported to cause several types of acrocephalosyndactyly. Among known genetic changes, there are variations in genes such as Fibroblast growth factor receptor (FGFR), [16] [17] [21] [22] TWIST1, [23] and RAB23 . [24] Constitutive activation in these categories of genes, particularly FGFR, which is heavily involved during the development stage of embryos such as organ development or organogenesis and the maintenance of tissue forming cells, known as progenitor cells, can be very detrimental. [25]

Genetically inherited acrocephalosyndactyly conditions all show high to complete penetrance with a variable expression, meaning that all individuals who inherit the condition present atypical characteristic craniofacial, hand, and foot structures, but the severity of disabilities is variable. [1] Increased paternal age is considered a risk factor in some cases. [1]

Impacts of Conditions on Life

Despite the current major efforts of surgical therapeutics on the effects of Acrocephalosyndactyly, morbidities still exist within individuals that have received treatment. Those who reach adulthood often have lower levels of education than their peers, as well as greater difficulty in various social aspects, such as dating, marriage, or sexual relationships. They may also report the need for assisted living throughout their life as well as other health issues, such as hearing issues or epilepsy at a more common frequency than their counterparts. [26]

Fortunately, many individual with the condition report similar levels of happiness with their lives as non-afflicted individuals [26] and show high social integration as well as great physical and emotional resilience despite any impediments. [27]

Diagnosis

Prenatal Diagnosis

Diagnosis prior to birth is possible for some forms of acrocephalosyndactyly. Prenatal genetic diagnosis is only possible if the gene variation responsible for the syndrome is known and the variation causing the disease has been identified within the genome of a family member. Collection of samples for genetic testing can be done using amniocentesis, which samples embryonic stem cells contained in amniotic fluid, or chorionic villus sampling, which samples placental cells. [15] There has been a case of a prenatal diagnosis of Apert syndrome using fetoscopy, where the fetus is observed using an endoscope inserted into the uterus from the abdomen. [22] Alternatively, there has been interest in using non-invasive techniques like ultrasound to detect atypical fetal skull features. [28]

Postnatal Diagnosis

Most diagnoses of acrocephalosyndactyly occur after birth by assessing the physical symptoms of the infant. This can be supported with radiographic imaging, such as X-ray imaging, and molecular genetic testing, which looks for DNA variations known to cause the disease. [29] [30] Molecular genetic testing typically occurs in the FGFR , TWIST1 , and RAB23 genes.

Nomenclature/Classification

There is no consistent nomenclature or classification across the different syndromes under the umbrella of acrocephalosyndactyly and acrocephalopolysyndactyly. Although acrocephalosyndactyly has been reported as early as the 18th century, [9] the ACS and ACPS classifications only came in the latter 20th century. However, this classification may be outdated as it has been suggested that the distinction between acrocephalosyndactyly and acrocephalopolysyndactyly should be erased. [5]

Currently, Noack syndrome (ACPS type I) is now classified as Pfeiffer syndrome (ACS type V); [31] Goodman syndrome (ACPS type IV) is classified as a variation of Carpenter syndrome (ACPS type II); [19] and different researchers have combined Apert (ASC type I), Crouzon (ASC type II), and Pfeiffer (ASC type V) syndrome into Apert-Crouzon [32] and Crouzon-Pfeiffer [33] syndrome.

Acrocephalosyndactyly type IV was formerly called Mohr Syndrome, however, it was later classified under Orofaciodigital syndrome type II. [34] Pfeiffer syndrome was formerly type VI and Waardenburg type V, but this was changed sometime after 1966. [35]  

Acrocephalosyndactyly (ACS):

Patient with Apert syndrome.jpg
Patient with Apert (ACS Type I) syndrome
Baby with Crouzon Syndrome (cropped).jpg
Patient with Crouzon (ACS Type II) syndrome

A related term, acrocephalopolysyndactyly (ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types:

Treatment

Craniosynostosis

For subtypes with craniosynostosis, surgery is required to prevent premature fusion of cranial sutures, such as the coronal suture (brachycephaly). [7] The cranial suture located between the two frontal and two parietal skull bones is called the coronal suture. [2] Cranioplasty should be performed in the first year of life to prevent disruptions in brain growth due to increased intracranial pressure. Midface surgery may also be required in childhood to detach the midface from the rest of the skull to correct respiratory and orthodontic problems. [43] [44]

Syndactyly

Syndactyly in certain subtypes is rarely severe enough to affect hand function, so treatment may not be needed. [43]

In more severe subtypes, as seen in Apert syndrome, surgical correction of syndactyly may be needed. Surgery is recommended to be performed as soon as possible, generally at 4 months of age. Treatment is dependent on the severity of syndactyly. The surgical treatment generally involves interdigital webspace release and thumb lengthening. [8]

Management

Treatment for those diagnosed with acrocephalosyndactyly extends beyond surgery. There are many steps that can aid in long-term management of the syndrome. Individuals afflicted with acrocephalosyndactyly and their caregivers can build a health care support system by building strong relationships with a team of medical specialists. Preformed teams of medical specialists can often be found at universities or research institutions. Caregivers can prevent future challenges by exploring options for financial aid, health insurance, and accommodating educational institutions. Primary caregivers are encouraged to prioritize their emotional health by reserving time for themselves and by sourcing a reliable support system. [29]

See also

Related Research Articles

<span class="mw-page-title-main">Macrocephaly</span> Abnormally large head size

Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.

<span class="mw-page-title-main">Brachycephaly</span> Short, broad head

Brachycephaly is the shape of a skull shorter than average in its species. It is perceived as a cosmetically desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species.

<span class="mw-page-title-main">Turricephaly</span> Medical condition

Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses.

<span class="mw-page-title-main">Plagiocephaly</span> Medical condition

Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion of the skull. A mild and widespread form is characterized by a flat spot on the back or one side of the head caused by remaining in a supine position for prolonged periods.

<span class="mw-page-title-main">Scaphocephaly</span> Cephalic disorder involving premature fusion of the sagittal suture

Scaphocephaly, or sagittal craniosynostosis, is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull resulting in a characteristic long, narrow head. The skull base is typically spared.

<span class="mw-page-title-main">Trigonocephaly</span> Congenital condition of premature fusion of the metopic suture

Trigonocephaly is a congenital condition due to premature fusion of the metopic suture, leading to a triangular forehead. The premature merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur as one component of a syndrome together with other abnormalities, or in isolated form. The term is from the Greek trigonon, "triangle", and kephale, "head".

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.

<span class="mw-page-title-main">Apert syndrome</span> Congenital disorder of the skull and digits

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.

<span class="mw-page-title-main">Craniosynostosis</span> Premature fusion of bones in the skull

Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ.

<span class="mw-page-title-main">Saethre–Chotzen syndrome</span> Medical condition

Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis. This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor abnormalities of the hands and feet (syndactyly). Individuals with more severe cases of SCS may have mild to moderate intellectual or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.

<span class="mw-page-title-main">Carpenter syndrome</span> Medical condition

Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.

<span class="mw-page-title-main">Jackson–Weiss syndrome</span> Medical condition

Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. This genetic disorder can also sometimes cause intellectual disability and crossed eyes. It was characterized in 1976.

<span class="mw-page-title-main">Pfeiffer syndrome</span> Genetic disorder of the skull

Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.

<span class="mw-page-title-main">Twist-related protein 1</span> Transcription factor protein

Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.

<span class="mw-page-title-main">Fibroblast growth factor receptor 2</span> Protein-coding gene in the species Homo sapiens

Fibroblast growth factor receptor 2 (FGFR2) also known as CD332 is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10. FGFR2 is a receptor for fibroblast growth factor.

<span class="mw-page-title-main">Antley–Bixler syndrome</span> Medical condition

Antley–Bixler syndrome is a rare, severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.

Ethylin Wang Jabs is an American physician and scientist with expertise in medical genetics, pediatrics, and craniofacial biology. She is currently vice chair of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai Medical Center. Jabs is also a professor in the departments of developmental and regenerative biology and pediatrics at Mount Sinai and an adjunct professor in pediatrics, medicine, and surgery at the Johns Hopkins School of Medicine. Her research and clinical practice have focused on development genetics and patients with birth defects.

<span class="mw-page-title-main">Munis Dundar</span>

Munis Dundar is a professor of Medical Genetics and Head of the Medical Genetics Department at Erciyes University, Kayseri, Turkey. He is founder and head of the Medical Genetics Department at Erciyes University and has carried out various administrative tasks since 1996. He defined four genetic syndromes in the medical literature: the “Dundar Syndrome”, “Dundar Acropectoral Syndrome”, “Scoliosis, Blindness and Arachnodactyly Syndrome” and “Multiple Congenital Abnormalities and Mental Retardation Syndrome”. He has taken part as project coordinator and assistant investigator in many research projects and has prepared articles published in international journals since 1995. He is the president of EBTNA and representative from Turkey. He is also the editor-in-chief of The EuroBiotech Journal.

<span class="mw-page-title-main">Craniosynostosis, Philadelphia type</span> Medical condition

Craniosynostosis, Philadelphia type is a rare autosomal dominant syndrome characterized by sagittal craniosynostosis (scaphocephaly) and soft tissue syndactyly of the hands and feet. This condition is considered a form of acrocephalosyndactyly.

References

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  6. ↑ Malik, S. (2014). "Polydactyly: phenotypes, genetics and classification". Clinical Genetics. 85 (3): 203–212. doi:10.1111/cge.12276. ISSN   0009-9163. PMID   24020795. S2CID   22412404.
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  18. ↑ Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Acrocephalopolysyndactyly Type IV: Goodman Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education
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  23. ↑ Cai, Juanliang; Goodman, Barbara K.; Patel, Ankita S.; Mulliken, John B.; Van Maldergem, Lionel; Hoganson, George E.; Paznekas, William A.; Ben-Neriah, Ziva; Sheffer, Ruth; Cunningham, Michael L.; Daentl, Donna L.; Jabs, Ethylin Wang (1 December 2003). "Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening". Human Genetics. 114 (1): 68–76. doi:10.1007/s00439-003-1012-7. ISSN   1432-1203. PMID   14513358. S2CID   20929600.
  24. ↑ Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda S.; Perlyn, Chad A.; Alonso, Luís G.; Bueno, Daniela F.; Donnai, Dian; Josifiova, Dragana; Mathijssen, Irene M. J.; Morton, Jenny E. V.; Ørstavik, Karen Helene; Sweeney, Elizabeth; Wall, Steven A.; Marsh, Jeffrey L.; Nürnberg, Peter (1 June 2007). "RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity". The American Journal of Human Genetics. 80 (6): 1162–1170. doi:10.1086/518047. ISSN   0002-9297. PMC   1867103 . PMID   17503333.
  25. ↑ Yamaji, Kojiro; Morita, Jumpei; Watanabe, Tsukasa; Gunjigake, Kaori; Nakatomi, Mitsushiro; Shiga, Momotoshi; Ono, Kentaro; Moriyama, Keiji; Kawamoto, Tatsuo (November 2018). "Maldevelopment of the submandibular gland in a mouse model of apert syndrome". Developmental Dynamics. 247 (11): 1175–1185. doi: 10.1002/dvdy.24673 . ISSN   1058-8388. PMID   30251381. S2CID   52815441.
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  31. 1 2 3 4 "Entry #101600 - Pfeiffer Syndrome". omim.org. Retrieved 4 December 2023.
  32. ↑ Rédei, George P., ed. (2008), "Apert or Apert-Crouzon Syndrome", Encyclopedia of Genetics, Genomics, Proteomics and Informatics, Dordrecht: Springer Netherlands, p. 127, doi:10.1007/978-1-4020-6754-9_1009, ISBN   978-1-4020-6754-9 , retrieved 5 November 2022
  33. ↑ Wilson, Alexander T.; de Planque, Catherine A.; Yang, Sumin S.; Tasker, Robert C.; van Veelen, Marie-Lise C.; Dremmen, Marjolein H. G.; Vrooman, Henri A.; Mathijssen, Irene M. J. (October 2020). "Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion". Plastic and Reconstructive Surgery. Global Open. 8 (10): e3204. doi:10.1097/GOX.0000000000003204. ISSN   2169-7574. PMC   7647527 . PMID   33173703.
  34. 1 2 "Entry - %252100 - Mohr Syndrome". omim.org. Retrieved 5 November 2022.
  35. 1 2 McKusick, V. A. (1966). "Autosomal Dominant Phenotypes". Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Johns Hopkins Press. pp. 3–5.
  36. ↑ "Entry - #123500 - CROUZON SYNDROME - OMIM". omim.org. Retrieved 5 November 2022.
  37. ↑ "Entry - #101400 - SAETHRE-CHOTZEN SYNDROME; SCS - OMIM". omim.org. Retrieved 5 November 2022.
  38. ↑ Reardon, W.; Winter, R. M. (1994). "Saethre-Chotzen syndrome". Journal of Medical Genetics. 31 (5): 393–396. doi:10.1136/jmg.31.5.393. ISSN   0022-2593. PMC   1049872 . PMID   8064818.
  39. ↑ "Entry #201000 - Carpenter Syndrome 1; CRPT1". omim.org. Retrieved 4 December 2023.
  40. 1 2 "Entry 201020 - Acrocephalopolysyndactyly type IV". omim.org. Retrieved 4 December 2023.
  41. ↑ "Entry 272350 - Summitt Syndrome". omim.org. Retrieved 4 December 2023.
  42. ↑ "Entry 101120 - Acrocephalopolysyndactyly type III". omim.org. Retrieved 4 December 2023.
  43. 1 2 Anderson, Peter. "Headlines Craniofacial Support" (PDF). Archived from the original on 30 June 2012.
  44. ↑ "Pfeiffer Syndrome". NORD (National Organization for Rare Disorders). Retrieved 5 November 2022.
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