Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome: Difference between revisions
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{{Infobox medical condition |
{{Infobox medical condition |
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|name = Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome |
|name = Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome |
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Latest revision as of 16:23, 24 April 2024
| Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome | |
|---|---|
| Other names | Hartsfield syndrome[1] |
| Specialty | Medical genetics |
| Diagnostic method | 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[edit]
Individuals 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 delay
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:
- Whole exome sequencing[11]
- Whole genome sequencing[12]
- General physical examination[10]
- Post-mortem examination/autopsy[13]
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]
- ^ "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, 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. 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 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. 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.
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