Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome explained

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
Synonyms:Hartsfield syndrome[1]
Cause:-->
Risk:-->
Diagnosis:genetic testing, physical examination
Prevention:None
Prognosis:poor
Frequency:rare, about 35 cases have been described in the medical literature
Deaths:most patients are either stillborn or die in infancy

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]

Signs and symptoms

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

Complications

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

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.

Types

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, and X-linked.

Diagnosis

This condition can be diagnosed through the following:

Prevalence

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

History

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.

See also

Notes and References

  1. Web site: Holoprosencephaly ectrodactyly cleft lip palate - NORD (National Organization for Rare Disorders) . 2022-07-20 . 2022-05-13 . https://web.archive.org/web/20220513140516/https://rarediseases.org/gard-rare-disease/holoprosencephaly-ectrodactyly-cleft-lip-palate/ . live .
  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 . en-US . 7 . 3 . 213–216 . 10.1097/00019605-199807000-00011 . 9689997 . 0962-8827 . 2022-07-20 . 2022-07-21 . https://web.archive.org/web/20220721003247/https://journals.lww.com/clindysmorphol/Abstract/1998/07000/Association_of_holoprosencephaly,_ectrodactyly,.11.aspx . live .
  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 . 10.1002/ajmg.a.32678 . 1552-4833 . 19504604 . 9132298 . 2022-07-20 . 2022-07-21 . https://web.archive.org/web/20220721003246/https://pubmed.ncbi.nlm.nih.gov/19504604/ . live .
  4. Web site: Holoprosencephaly ectrodactyly cleft lip palate - About the Disease - Genetic and Rare Diseases Information Center . 2022-07-20 . rarediseases.info.nih.gov . en . 2021-03-21 . https://web.archive.org/web/20210321042716/https://rarediseases.info.nih.gov/diseases/2725/holoprosencephaly-ectrodactyly-cleft-lip-palate . live .
  5. Web site: Clinical Synopsis - #615465 - HARTSFIELD SYNDROME; HRTFDS - OMIM . 2022-07-20 . omim.org . 2022-07-21 . https://web.archive.org/web/20220721003252/https://omim.org/clinicalSynopsis/615465 . live .
  6. Web site: Entry - #615465 - HARTSFIELD SYNDROME; HRTFDS - OMIM . 2022-07-20 . omim.org . en-us . 2022-01-21 . https://web.archive.org/web/20220121054314/http://omim.org/entry/615465#5 . live .
  7. Web site: Hartsfield syndrome: MedlinePlus Genetics . 2022-07-20 . medlineplus.gov . en . 2022-07-21 . https://web.archive.org/web/20220721003303/https://medlineplus.gov/genetics/condition/hartsfield-syndrome/ . live .
  8. Web site: FGFR1 gene: MedlinePlus Genetics . 2022-07-20 . medlineplus.gov . en . 2022-02-09 . https://web.archive.org/web/20220209122828/https://medlineplus.gov/genetics/gene/fgfr1/ . live .
  9. 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 . 10.1136/jmedgenet-2013-101603 . 1468-6244 . 3756455 . 23812909 .
  10. 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 . 10.1136/jmedgenet-2013-101603 . 1468-6244 . 3756455 . 23812909 .
  11. 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 . 10.1002/ajmg.a.32844 . 1552-4833 . 19449411 . 5191085 . 2022-07-20 . 2022-07-21 . https://web.archive.org/web/20220721003253/https://pubmed.ncbi.nlm.nih.gov/19449411/ . live .
  12. 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 . 10.1097/00019605-200310000-00002 . 0962-8827 . 14564207 . 23815939 . 2022-07-20 . 2022-07-21 . https://web.archive.org/web/20220721003253/https://pubmed.ncbi.nlm.nih.gov/14564207/ . live .
  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 . 10.1097/00019605-199201000-00008 . 0962-8827 . 1342859 . 10782823 . 2022-07-20 . 2022-07-21 . https://web.archive.org/web/20220721003253/https://pubmed.ncbi.nlm.nih.gov/1342859/ . live .
  14. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Search a disease . 2022-07-20 . www.orpha.net . en . 2020-09-23 . https://web.archive.org/web/20200923233236/https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2026 . live .

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