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Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

April 12, 2024

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, also simply known as Hartsfield syndrome, is a rare genetic disorder characterized by the presence of variable holoprosencephaly, ectrodactyly, cleft lip and palate, alongside generalized ectodermal abnormalities. Additional findings include endocrine anomalies and developmental delays.[2][3]

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
Other namesHartsfield syndrome[1]
SpecialtyMedical genetics
Diagnostic methodgenetic testing, physical examination
PreventionNone
Prognosispoor
Frequencyrare, about 35 cases have been described in the medical literature
Deathsmost patients are either stillborn or die in infancy

Signs and symptoms edit

Individuals with this condition exhibit the following symptoms:[4][5]

Complications edit

Most babies with this condition don't usually live to suffer the complications of the condition, since they usually are stillborn or die in early infancy (premature death).[6]

Genetics edit

This condition is caused by missense mutations in the FGFR1 gene, located in chromosome 8. These mutations can either be inherited in an autosomal dominant or an X-linked manner.[7] This gene is essential for the creation of the fibroblast growth factor receptor 1 protein, which involve processes like cell division, regulating cell growth and maturation, blood vessel formation, healing of wounds and appropriate embryonic development.[8] The mutations involved in this disorder either decrease or eliminate the proper functioning of the FGFR1 protein, this impairment takes the ability of the protein to bind to FGFs with it, this causes the receptor to be unable of transmitting signals properly.[8]

Types edit

There are some types (not clinically recognized) of this condition based on their mode of inheritance, some of them include autosomal recessive,[9] autosomal dominant,[10] and X-linked.[9]

Diagnosis edit

This condition can be diagnosed through the following:

Prevalence edit

According to OrphaNet, 35 cases worldwide have been described in medical literature.[14]

History edit

This condition was first discovered in 1984 by Hartsfield et al. when they described a male baby with various congenital anomalies, of which three were holoprosencephaly, ectrodactyly, and cleft lip and palate. Other findings included depressed nasal bridge, hypertelorism, low-set ears, craniosynostosis, right radius deficiency, hypoplasia of the corpus callosum, agenesis of the septum pellucidum, frontal lobe fusion, and marked agenesis of the olfactory bulb and tract. Said baby had died when he was 7 days old.[6]

See also edit

References edit

  1. ^ "Holoprosencephaly ectrodactyly cleft lip palate - NORD (National Organization for Rare Disorders)". from the original on 2022-05-13. Retrieved 2022-07-20.
  2. ^ Imaizumi, Kiyoshi; Ishii, Takuma; Masuno, Mitsuo; Kuroki, Yoshikazu (1998-07-01). "Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case". Clinical Dysmorphology. 7 (3): 213–216. doi:10.1097/00019605-199807000-00011. ISSN 0962-8827. PMID 9689997. from the original on 2022-07-21. Retrieved 2022-07-20.
  3. ^ Vilain, Catheline; Mortier, Geert; Van Vliet, Guy; Dubourg, Christèle; Heinrichs, Claudine; de Silva, Deephti; Verloes, Alain; Baumann, Clarisse (2009-07-01). "Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review". American Journal of Medical Genetics. Part A. 149A (7): 1476–1481. doi:10.1002/ajmg.a.32678. ISSN 1552-4833. PMID 19504604. S2CID 9132298. from the original on 2022-07-21. Retrieved 2022-07-20.
  4. ^ "Holoprosencephaly ectrodactyly cleft lip palate - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. from the original on 2021-03-21. Retrieved 2022-07-20.
  5. ^ "Clinical Synopsis - #615465 - HARTSFIELD SYNDROME; HRTFDS - OMIM". omim.org. from the original on 2022-07-21. Retrieved 2022-07-20.
  6. ^ a b "Entry - #615465 - HARTSFIELD SYNDROME; HRTFDS - OMIM". omim.org. from the original on 2022-01-21. Retrieved 2022-07-20.
  7. ^ "Hartsfield syndrome: MedlinePlus Genetics". medlineplus.gov. from the original on 2022-07-21. Retrieved 2022-07-20.
  8. ^ a b "FGFR1 gene: MedlinePlus Genetics". medlineplus.gov. from the original on 2022-02-09. Retrieved 2022-07-20.
  9. ^ a b Simonis, Nicolas; Migeotte, Isabelle; Lambert, Nelle; Perazzolo, Camille; de Silva, Deepthi C.; Dimitrov, Boyan; Heinrichs, Claudine; Janssens, Sandra; Kerr, Bronwyn; Mortier, Geert; Van Vliet, Guy (2013-09-01). "FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly". Journal of Medical Genetics. 50 (9): 585–592. doi:10.1136/jmedgenet-2013-101603. ISSN 1468-6244. PMC 3756455. PMID 23812909.
  10. ^ a b König, Rainer; Beeg, Thomas; Tariverdian, Gholamali; Scheffer, Hans; Bitter, Klaus (October 2003). "Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up". Clinical Dysmorphology. 12 (4): 221–225. doi:10.1097/00019605-200310000-00002. ISSN 0962-8827. PMID 14564207. S2CID 23815939. from the original on 2022-07-21. Retrieved 2022-07-20.
  11. ^ Simonis, Nicolas; Migeotte, Isabelle; Lambert, Nelle; Perazzolo, Camille; de Silva, Deepthi C.; Dimitrov, Boyan; Heinrichs, Claudine; Janssens, Sandra; Kerr, Bronwyn; Mortier, Geert; Van Vliet, Guy (September 2013). "FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly". Journal of Medical Genetics. 50 (9): 585–592. doi:10.1136/jmedgenet-2013-101603. ISSN 1468-6244. PMC 3756455. PMID 23812909.
  12. ^ Zechi-Ceide, Roseli Maria; Ribeiro, Lucilene Arilho; Raskin, Salmo; Bertolacini, Claudia Danielli Pereira; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio (June 2009). "Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes". American Journal of Medical Genetics. Part A. 149A (6): 1277–1279. doi:10.1002/ajmg.a.32844. ISSN 1552-4833. PMID 19449411. S2CID 5191085. from the original on 2022-07-21. Retrieved 2022-07-20.
  13. ^ Young, I. D.; Zuccollo, J. M.; Barrow, M.; Fowlie, A. (January 1992). "Holoprosencephaly, telecanthus and ectrodactyly: a second case". Clinical Dysmorphology. 1 (1): 47–51. doi:10.1097/00019605-199201000-00008. ISSN 0962-8827. PMID 1342859. S2CID 10782823. from the original on 2022-07-21. Retrieved 2022-07-20.
  14. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search a disease". www.orpha.net. from the original on 2020-09-23. Retrieved 2022-07-20.{{cite web}}: CS1 maint: numeric names: authors list (link)

April 12, 2024
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This article is an orphan as no other articles link to it Please introduce links to this page from related articles try the Find link tool for suggestions July 2022 Holoprosencephaly ectrodactyly cleft lip palate syndrome also simply known as Hartsfield syndrome is a rare genetic disorder characterized by the presence of variable holoprosencephaly ectrodactyly cleft lip and palate alongside generalized ectodermal abnormalities Additional findings include endocrine anomalies and developmental delays 2 3 Holoprosencephaly ectrodactyly cleft lip palate syndromeOther namesHartsfield syndrome 1 SpecialtyMedical geneticsDiagnostic methodgenetic testing physical examinationPreventionNonePrognosispoorFrequencyrare about 35 cases have been described in the medical literatureDeathsmost patients are either stillborn or die in infancy Contents 1 Signs and symptoms 2 Complications 3 Genetics 4 Types 5 Diagnosis 6 Prevalence 7 History 8 See also 9 ReferencesSigns and symptoms editIndividuals with this condition exhibit the following symptoms 4 5 Agenesis or hypoplasia of the corpus callosum Encephalocele Holoprosencephaly Craniosynostosis Low set ears Microphthalmia Hypertelorism Telecanthus Ptosis of the eyelid Down slanting palpebral fissures Depression of the nasal bridge Cleft palate Cleft lip Respiratory problems Radial dysplasia Cleft hand deformity Syndactyly Fetal growth delayComplications editMost babies with this condition don t usually live to suffer the complications of the condition since they usually are stillborn or die in early infancy premature death 6 Genetics editThis condition is caused by missense mutations in the FGFR1 gene located in chromosome 8 These mutations can either be inherited in an autosomal dominant or an X linked manner 7 This gene is essential for the creation of the fibroblast growth factor receptor 1 protein which involve processes like cell division regulating cell growth and maturation blood vessel formation healing of wounds and appropriate embryonic development 8 The mutations involved in this disorder either decrease or eliminate the proper functioning of the FGFR1 protein this impairment takes the ability of the protein to bind to FGFs with it this causes the receptor to be unable of transmitting signals properly 8 Types editThere are some types not clinically recognized of this condition based on their mode of inheritance some of them include autosomal recessive 9 autosomal dominant 10 and X linked 9 Diagnosis editThis condition can be diagnosed through the following Whole exome sequencing 11 Whole genome sequencing 12 General physical examination 10 Post mortem examination autopsy 13 Prevalence editAccording to OrphaNet 35 cases worldwide have been described in medical literature 14 History editThis condition was first discovered in 1984 by Hartsfield et al when they described a male baby with various congenital anomalies of which three were holoprosencephaly ectrodactyly and cleft lip and palate Other findings included depressed nasal bridge hypertelorism low set ears craniosynostosis right radius deficiency hypoplasia of the corpus callosum agenesis of the septum pellucidum frontal lobe fusion and marked agenesis of the olfactory bulb and tract Said baby had died when he was 7 days old 6 See also editHoloprosencephaly Ectrodactyly Cleft lip and palate Stillbirth MiscarriageReferences edit Holoprosencephaly ectrodactyly cleft lip palate NORD National Organization for Rare Disorders Archived from the original on 2022 05 13 Retrieved 2022 07 20 Imaizumi Kiyoshi Ishii Takuma Masuno Mitsuo Kuroki Yoshikazu 1998 07 01 Association of holoprosencephaly ectrodactyly cleft lip cleft palate and hypertelorism a possible third case Clinical Dysmorphology 7 3 213 216 doi 10 1097 00019605 199807000 00011 ISSN 0962 8827 PMID 9689997 Archived from the original on 2022 07 21 Retrieved 2022 07 20 Vilain Catheline Mortier Geert Van Vliet Guy Dubourg Christele Heinrichs Claudine de Silva Deephti Verloes Alain Baumann Clarisse 2009 07 01 Hartsfield holoprosencephaly ectrodactyly syndrome in five male patients further delineation and review American Journal of Medical Genetics Part A 149A 7 1476 1481 doi 10 1002 ajmg a 32678 ISSN 1552 4833 PMID 19504604 S2CID 9132298 Archived from the original on 2022 07 21 Retrieved 2022 07 20 Holoprosencephaly ectrodactyly cleft lip palate About the Disease Genetic and Rare Diseases Information Center rarediseases info nih gov Archived from the original on 2021 03 21 Retrieved 2022 07 20 Clinical Synopsis 615465 HARTSFIELD SYNDROME HRTFDS OMIM omim org Archived from the original on 2022 07 21 Retrieved 2022 07 20 a b Entry 615465 HARTSFIELD SYNDROME HRTFDS OMIM omim org Archived from the original on 2022 01 21 Retrieved 2022 07 20 Hartsfield syndrome MedlinePlus Genetics medlineplus gov Archived from the original on 2022 07 21 Retrieved 2022 07 20 a b FGFR1 gene MedlinePlus Genetics medlineplus gov Archived from the original on 2022 02 09 Retrieved 2022 07 20 a b Simonis Nicolas Migeotte Isabelle Lambert Nelle Perazzolo Camille de Silva Deepthi C Dimitrov Boyan Heinrichs Claudine Janssens Sandra Kerr Bronwyn Mortier Geert Van Vliet Guy 2013 09 01 FGFR1 mutations cause Hartsfield syndrome the unique association of holoprosencephaly and ectrodactyly Journal of Medical Genetics 50 9 585 592 doi 10 1136 jmedgenet 2013 101603 ISSN 1468 6244 PMC 3756455 PMID 23812909 a b Konig Rainer Beeg Thomas Tariverdian Gholamali Scheffer Hans Bitter Klaus October 2003 Holoprosencephaly bilateral cleft lip and palate and ectrodactyly another case and follow up Clinical Dysmorphology 12 4 221 225 doi 10 1097 00019605 200310000 00002 ISSN 0962 8827 PMID 14564207 S2CID 23815939 Archived from the original on 2022 07 21 Retrieved 2022 07 20 Simonis Nicolas Migeotte Isabelle Lambert Nelle Perazzolo Camille de Silva Deepthi C Dimitrov Boyan Heinrichs Claudine Janssens Sandra Kerr Bronwyn Mortier Geert Van Vliet Guy September 2013 FGFR1 mutations cause Hartsfield syndrome the unique association of holoprosencephaly and ectrodactyly Journal of Medical Genetics 50 9 585 592 doi 10 1136 jmedgenet 2013 101603 ISSN 1468 6244 PMC 3756455 PMID 23812909 Zechi Ceide Roseli Maria Ribeiro Lucilene Arilho Raskin Salmo Bertolacini Claudia Danielli Pereira Guion Almeida Maria Leine Richieri Costa Antonio June 2009 Holoprosencephaly ectrodactyly and bilateral cleft of lip and palate exclusion of SHH TGIF SIX3 GLI2 TP73L and DHCR7 as candidate genes American Journal of Medical Genetics Part A 149A 6 1277 1279 doi 10 1002 ajmg a 32844 ISSN 1552 4833 PMID 19449411 S2CID 5191085 Archived from the original on 2022 07 21 Retrieved 2022 07 20 Young I D Zuccollo J M Barrow M Fowlie A January 1992 Holoprosencephaly telecanthus and ectrodactyly a second case Clinical Dysmorphology 1 1 47 51 doi 10 1097 00019605 199201000 00008 ISSN 0962 8827 PMID 1342859 S2CID 10782823 Archived from the original on 2022 07 21 Retrieved 2022 07 20 RESERVED INSERM US14 ALL RIGHTS Orphanet Search a disease www orpha net Archived from the original on 2020 09 23 Retrieved 2022 07 20 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link Retrieved from https en wikipedia org w index php title Holoprosencephaly ectrodactyly cleft lip palate syndrome amp oldid 1185317937, wikipedia, wiki, book, books, library,

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